Variant Results

or

Results for "ASXL3"

Variant Events: 131

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ASXL3

M16220

chr18:
31319472-31319472

T

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.T2104G

p.S702A

11.92

-

Guo2018 T

ASXL3

AU050603

chr18:
31170533-31170533

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

M13465

chr18:
31319109-31319109

G

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G1741A

p.G581S

7.743

-

Guo2018 T

ASXL3

GX0149.p1

chr18:
31323981-31323983

CTG

C

exonic

De novo

frameshift deletion

NM_030632

c.4170_4171del

p.T1390fs

-

Guo2018 T

ASXL3

M27809

chr18:
31320142-31320142

A

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.A2774G

p.H925R

16.03

-

Guo2018 T

ASXL3

M19658

chr18:
31319481-31319481

T

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.T2113A

p.S705T

17.71

-

Guo2018 T

ASXL3

Chen2021:3

chr18:
31319264-31319266

ACA

A

exonic

De novo

frameshift deletion

NM_030632

c.1897_1898del

p.Q633fs

-

Chen2021 GET

ASXL3

AU1987304

chr18:
31292185-31292185

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

1-0054-003

chr18:
31293305-31293305

A

ACCCCCCC

intronic

De novo

-

Yuen2017 G

ASXL3

M21577

chr18:
31323788-31323788

T

C

exonic

Maternal

nonsynonymous SNV

NM_030632

c.T3976C

p.S1326P

1.183

7.459E-5

Guo2018 T

ASXL3

M08674

chr18:
31323088-31323088

G

C

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G3276C

p.E1092D

16.76

-

Guo2018 T

ASXL3

M08098

chr18:
31324893-31324893

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C5081T

p.P1694L

0.766

4.144E-5

Guo2018 T

ASXL3

M11403

chr18:
31324095-31324095

G

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G4283A

p.S1428N

5.991

8.29E-6

Guo2018 T

ASXL3

GX0083.p1

chr18:
31325279-31325279

C

T

exonic

De novo

stopgain

NM_030632

c.C5467T

p.R1823X

44.0

-

Guo2018 T

ASXL3

M08602

chr18:
31320333-31320333

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C2965T

p.R989W

14.42

-

Guo2018 T

ASXL3

GX0384.p1

chr18:
31319462-31319463

AC

A

exonic

De novo

frameshift deletion

NM_030632

c.2095delC

p.P699fs

-

Guo2018 T

ASXL3

M18396

chr18:
31320216-31320216

G

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G2848A

p.D950N

13.4

-

Guo2018 T

ASXL3

M08446

chr18:
31323051-31323051

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C3239T

p.A1080V

17.15

-

Guo2018 T

ASXL3

M01793

chr18:
31320346-31320346

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C2978T

p.S993F

7.646

-

Guo2018 T

ASXL3

11782.p1

chr18:
31207035-31207035

G

C

intronic

De novo

-

Wilfert2021 G

ASXL3

Li2017:22913

chr18:
31224889-31224889

A

G

exonic

Unknown

nonsynonymous SNV

NM_030632

c.A169G

p.M57V

21.1

-

Li2017 T

ASXL3

M10090

chr18:
31326285-31326285

A

C

exonic

Maternal

nonsynonymous SNV

NM_030632

c.A6473C

p.H2158P

17.39

6.625E-5

Guo2018 T

ASXL3

Husson2020:85

chr18:
31323549-31323549

C

A

exonic

stopgain

NM_030632

c.C3737A

p.S1246X

40.0

-

Husson2020 E

ASXL3

7-0024-005

chr18:
31225543-31225543

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

ACGC_GX0149.p1

chr18:
31323981-31323983

CTG

C

exonic

De novo

frameshift deletion

NM_030632

c.4170_4171del

p.T1390fs

-

Wang2020 T

ASXL3

iHART1921

chr18:
31251813-31251813

T

TA

exonic

Paternal

frameshift insertion

NM_030632

c.699dupA

p.L233fs

-

Ruzzo2019 G

ASXL3

ACGC_GX0384.p1

chr18:
31319462-31319463

AC

A

exonic

De novo

frameshift deletion

NM_030632

c.2095delC

p.P699fs

-

Wang2020 T

ASXL3

ACGC_GX0083.p1

chr18:
31325279-31325279

C

T

exonic

De novo

stopgain

NM_030632

c.C5467T

p.R1823X

44.0

-

Wang2020 T

ASXL3

M32098

chr18:
31324118-31324118

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A4306G

p.S1436G

11.44

-

Guo2018 T

ASXL3

3-0648-000

chr18:
31257380-31257384

AATTT

A

intronic

De novo

-

Trost2022 G

ASXL3

GX0410.p1

chr18:
31324022-31324022

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A4210G

p.T1404A

9.259

-

Guo2018 T

ASXL3

MT_166.3

chr18:
31265486-31265486

T

C

intronic

De novo

-

Trost2022 G

ASXL3

M30363

chr18:
31324892-31324892

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5080T

p.P1694S

2.729

-

Guo2018 T

ASXL3

M30366

chr18:
31324343-31324343

G

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G4531A

p.V1511I

0.003

2.0E-4

Guo2018 T

ASXL3

REACH000626

chr18:
31242029-31242029

A

G

intronic

De novo

-

Trost2022 G

ASXL3

GX0074.p1

chr18:
31226221-31226221

T

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T259C

p.S87P

15.73

-

Guo2018 T

ASXL3

M30928

chr18:
31320129-31320129

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A2761G

p.R921G

14.0

-

Guo2018 T

ASXL3

GX0103.p1

chr18:
31319536-31319536

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C2168G

p.P723R

14.8

8.283E-6

Guo2018 T

ASXL3

MSSNG00060-003

chr18:
31328285-31328285

C

T

downstream

De novo

-

Trost2022 G

ASXL3

GX0197.p1

chr18:
31325261-31325261

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5449G

p.P1817A

12.67

-

Guo2018 T

ASXL3

1-1109-003

chr18:
31285043-31285043

G

A

intronic

De novo

-

Trost2022 G

ASXL3

GX0007.p1

chr18:
31325064-31325064

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5252T

p.T1751M

19.89

1.659E-5

Guo2018 T

ASXL3

5-5046-004

chr18:
31321421-31321421

C

T

intronic

De novo

-

Trost2022 G

ASXL3

1-0271-003

chr18:
31269578-31269578

T

G

intronic

De novo

-

Trost2022 G

ASXL3

AU3680302

chr18:
31230004-31230004

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

GX0466.p1

chr18:
31326285-31326285

A

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A6473C

p.H2158P

17.39

6.625E-5

Guo2018 T

ASXL3

7-0309-004

chr18:
31278882-31278882

A

T

intronic

De novo

-

Trost2022 G

ASXL3

HEN0003.p1

chr18:
31325804-31325804

G

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G5992C

p.E1998Q

13.33

8.317E-5

Guo2018 T

ASXL3

GX0539.p1

chr18:
31324877-31324877

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5065G

p.P1689A

2.808

-

Guo2018 T

ASXL3

SD0088.p1

chr18:
31226219-31226219

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C257T

p.S86L

24.3

-

Guo2018 T

ASXL3

DEASD_0395_001

chr18:
31322918-31322918

C

T

exonic

Unknown, De novo

stopgain

NM_030632

c.C3106T

p.R1036X

38.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

ASXL3

M03353

chr18:
31320346-31320346

C

T

exonic

Unknown

nonsynonymous SNV

NM_030632

c.C2978T

p.S993F

7.646

-

Guo2018 T

ASXL3

HEN0037.p1

chr18:
31324716-31324716

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A4904G

p.E1635G

5.121

-

Guo2018 T

ASXL3

NDAR_INVLR026ZEP_wes1

chr18:
31323981-31323981

C

CT

exonic

Unknown, De novo

frameshift insertion

NM_030632

c.4170dupT

p.T1390fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

ASXL3

HEN0162.p1

chr18:
31323195-31323195

G

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G3383A

p.R1128Q

15.59

-

Guo2018 T

ASXL3

TASC_217-14320-4340

chr18:
31323338-31323338

C

T

exonic

Unknown

nonsynonymous SNV

NM_030632

c.C3526T

p.R1176W

20.2

4.157E-5

Wang2020 T

ASXL3

ACGC_HN0116.p1

chr18:
31250700-31250700

C

T

exonic

Unknown

nonsynonymous SNV

NM_030632

c.C541T

p.R181C

17.96

-

Wang2020 T

ASXL3

Miyake2023:2239

chr18:
31318455-31318456

GG

G

exonic

De novo

frameshift deletion

NM_030632

c.1088delG

p.G363fs

-

Miyake2023 E

ASXL3

SP0111210

chr18:
31323991-31323993

AGC

A

exonic

De novo

frameshift deletion

NM_030632

c.4180_4181del

p.A1394fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

SP0037585

chr18:
31263325-31263325

C

A

intronic

De novo

-

Fu2022 E

ASXL3

AU1244301

chr18:
31318450-31318450

G

A

splicing

Inherited

splicing

15.16

-

Stessman2017 T

ASXL3

AU049304

chr18:
31295055-31295055

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

SP0010005

chr18:
31324134-31324134

C

G

exonic

De novo

stopgain

NM_030632

c.C4322G

p.S1441X

42.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

SP0111212

chr18:
31323991-31323993

AGC

A

exonic

De novo

frameshift deletion

NM_030632

c.4180_4181del

p.A1394fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

mAGRE4743

chr18:
31318450-31318450

G

A

splicing

De novo

splicing

15.16

-

Cirnigliaro2023 G

ASXL3

SP0068299

chr18:
31241542-31241542

T

C

intronic

De novo

-

Fu2022 E

ASXL3

mAGRE1921

chr18:
31251813-31251813

T

TA

exonic

Paternal

frameshift insertion

NM_030632

c.699dupA

p.L233fs

-

Cirnigliaro2023 G

ASXL3

SP0141034

chr18:
31323589-31323589

T

C

exonic

De novo

synonymous SNV

NM_030632

c.T3777C

p.D1259D

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

GX0235.p1

chr18:
31323051-31323051

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C3239T

p.A1080V

17.15

-

Guo2018 T

ASXL3

GX0024.p1

chr18:
31322990-31322990

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C3178T

p.R1060W

17.8

8.402E-6

Guo2018 T

ASXL3

HN0102.p1

chr18:
31323788-31323788

T

C

exonic

Maternal

nonsynonymous SNV

NM_030632

c.T3976C

p.S1326P

1.183

7.459E-5

Guo2018 T

ASXL3

HN0122.p1

chr18:
31323549-31323549

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C3737T

p.S1246L

16.75

8.293E-6

Guo2018 T

ASXL3

GX0516.p1

chr18:
31320307-31320307

C

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C2939G

p.A980G

22.6

-

Guo2018 T

ASXL3

GX0187.p1

chr18:
31319536-31319536

C

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C2168G

p.P723R

14.8

8.283E-6

Guo2018 T

ASXL3

AU4372309

chr18:
31354731-31354731

A

G

intergenic

De novo

-

Yuen2017 G

ASXL3

GX0157.p1

chr18:
31324983-31324983

C

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C5171G

p.T1724S

3.603

-

Guo2018 T

ASXL3

GX0180.p1

chr18:
31324332-31324332

C

G

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C4520G

p.T1507R

12.83

-

Guo2018 T

ASXL3

SP0007002

chr18:
31325781-31325781

T

TATCC

exonic

De novo

frameshift insertion

NM_030632

c.5969_5970insATCC

p.L1990fs

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

HEN0252.p1

chr18:
31319823-31319823

G

A

exonic

Unknown

nonsynonymous SNV

NM_030632

c.G2455A

p.A819T

0.046

8.328E-6

Guo2018 T

ASXL3

HEN0294.p1

chr18:
31318749-31318749

A

G

exonic

Unknown

nonsynonymous SNV

NM_030632

c.A1381G

p.S461G

12.64

-

Guo2018 T

ASXL3

M23834

chr18:
31241618-31241618

C

C/G

exonic

De novo

-

Guo2018 T

ASXL3

2-1389-003

chr18:
31257566-31257566

T

C

intronic

De novo

-

Yuen2017 G

ASXL3

AGRE_AU1244301

chr18:
31318450-31318450

G

A

splicing

Unknown

splicing

15.16

-

Wang2020 T

ASXL3

JS0003.p1

chr18:
31325507-31325507

C

C/T

exonic

De novo

-

Guo2018 T

ASXL3

1-0458-005

chr18:
31167773-31167773

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

A0021

chr18:
31319264-31319266

ACA

A

exonic

De novo

frameshift deletion

NM_030632

c.1897_1898del

p.Q633fs

-

Xiong2019 ET

ASXL3

Wang2023:422

chr18:
31318938-31318938

G

T

exonic

De novo

stopgain

NM_030632

c.G1570T

p.E524X

15.06

-

Wang2023 E

ASXL3

SF0096551.p2

chr18:
31320169-31320169

T

G

exonic

stopgain

NM_030632

c.T2801G

p.L934X

18.12

-

Wang2020 T

ASXL3

SF0136734.p1

chr18:
31319342-31319346

TACAG

T

exonic

frameshift deletion

NM_030632

c.1975_1978del

p.T659fs

-

Wang2020 T

ASXL3

SP0046243

Complex Event; expand row to view variants

frameshift insertion, frameshift substitution

NM_030632
NM_030632

c.5091_5092insTACAACAAACTCC
c.5092_5096TACAACAAACTCCGG

p.E1697fs
N/A

-

Antaki2022 GE
Zhou2022 GE

ASXL3

SF0108176.p1

chr18:
31323559-31323563

TAAAG

T

exonic

frameshift deletion

NM_030632

c.3748_3751del

p.K1250fs

-

Wang2020 T

ASXL3

SF0106896.p1

chr18:
31320169-31320169

T

G

exonic

stopgain

NM_030632

c.T2801G

p.L934X

18.12

-

Wang2020 T

ASXL3

SP0108176

chr18:
31323559-31323563

TAAAG

T

exonic

De novo

frameshift deletion

NM_030632

c.3748_3751del

p.K1250fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

SP0136734

chr18:
31319342-31319346

TACAG

T

exonic

De novo

frameshift deletion

NM_030632

c.1975_1978del

p.T659fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ASXL3

M20692

chr18:
31318468-31318468

A

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A1100C

p.E367A

14.6

9.194E-6

Guo2018 T

ASXL3

M08419

chr18:
31250746-31250746

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C587T

p.S196L

19.34

9.252E-5

Guo2018 T

ASXL3

M19810

chr18:
31319328-31319328

T

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T1960A

p.S654T

18.87

1.692E-5

Guo2018 T

ASXL3

M12510

chr18:
31318843-31318843

T

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T1475C

p.I492T

0.024

-

Guo2018 T

ASXL3

M23227

chr18:
31187576-31187576

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A73G

p.N25D

16.17

-

Guo2018 T

ASXL3

SF0010005.p1

chr18:
31324134-31324134

C

G

exonic

stopgain

NM_030632

c.C4322G

p.S1441X

42.0

-

Wang2020 T

ASXL3

M12362

chr18:
31241618-31241618

C

C/G

exonic

Paternal

-

Guo2018 T

ASXL3

M08509

chr18:
31226219-31226219

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C257T

p.S86L

24.3

-

Guo2018 T

ASXL3

M18388

chr18:
31323788-31323788

T

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T3976C

p.S1326P

1.183

7.459E-5

Guo2018 T

ASXL3

M02363

chr18:
31323758-31323758

A

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.A3946G

p.S1316G

7.313

-

Guo2018 T

ASXL3

20705-32533

chr18:
31324700-31324704

CAAAA

C

exonic

frameshift deletion

NM_030632

c.4889_4892del

p.Q1630fs

-

Callaghan2019 G

ASXL3

M16056

chr18:
31324464-31324464

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C4652T

p.T1551I

0.05

-

Guo2018 T

ASXL3

M13413

chr18:
31324254-31324254

T

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T4442A

p.L1481Q

17.51

-

Guo2018 T

ASXL3

M08781

chr18:
31323088-31323088

G

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G3276C

p.E1092D

16.76

-

Guo2018 T

ASXL3

M12434

chr18:
31319829-31319829

G

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G2461A

p.E821K

11.57

-

Guo2018 T

ASXL3

M04453

chr18:
31323609-31323609

C

T

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C3797T

p.S1266F

18.98

-

Guo2018 T

ASXL3

M08512

chr18:
31323500-31323500

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C3688G

p.L1230V

17.29

-

Guo2018 T

ASXL3

M19612

chr18:
31326261-31326261

T

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.T6449C

p.L2150P

14.47

8.282E-6

Guo2018 T

ASXL3

M15039

chr18:
31326032-31326032

G

A

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G6220A

p.G2074S

9.854

7.551E-5

Guo2018 T

ASXL3

M16056

chr18:
31325187-31325187

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5375G

p.P1792R

8.392

-

Guo2018 T

ASXL3

M19639

chr18:
31324717-31324717

G

C

exonic

Paternal

nonsynonymous SNV

NM_030632

c.G4905C

p.E1635D

8.527

2.522E-5

Guo2018 T

ASXL3

M08626

chr18:
31325600-31325600

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5788G

p.Q1930E

13.96

8.298E-6

Guo2018 T

ASXL3

M10141

chr18:
31325600-31325600

C

G

exonic

Paternal

nonsynonymous SNV

NM_030632

c.C5788G

p.Q1930E

13.96

8.298E-6

Guo2018 T

ASXL3

2-1709-003

chr18:
31324718-31324718

C

T

exonic

De novo

stopgain

NM_030632

c.C4906T

p.Q1636X

38.0

-

Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

ASXL3

Hu2022:82

chr18:
31322948-31322948

G

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G3136A

p.G1046R

14.83

2.517E-5

Hu2022 T

ASXL3

Mahjani2021:85

chr18:
31324020-31324022

TCA

T

exonic

frameshift deletion

NM_030632

c.4209_4210del

p.V1403fs

-

Mahjani2021 E

ASXL3

217-14320-4340

chr18:
31323338-31323338

C

T

exonic

Unknown

nonsynonymous SNV

NM_030632

c.C3526T

p.R1176W

20.2

4.157E-5

Stessman2017 T

ASXL3

Wang2023:495

chr18:
31324211-31324211

C

T

exonic

De novo

stopgain

NM_030632

c.C4399T

p.R1467X

40.0

-

Wang2023 E

ASXL3

DEASD_3018_001

chr18:
31324290-31324309

GCTCAGAAGCCAGCTTGGAC

G

exonic

De novo

frameshift deletion

NM_030632

c.4479_4497del

p.S1493fs

-

Fu2022 E

ASXL3

1000262100274511-C

chr18:
31318502-31318502

C

T

exonic

De novo

synonymous SNV

NM_030632

c.C1134T

p.N378N

-

4.336E-5

Fu2022 E

ASXL3

200675499_1082035007

chr18:
31158647-31158647

C

T

exonic

De novo

synonymous SNV

NM_030632

c.C52T

p.L18L

-

Fu2022 E

ASXL3

SD0008.p1

chr18:
31319823-31319823

G

A

exonic

Maternal

nonsynonymous SNV

NM_030632

c.G2455A

p.A819T

0.046

8.328E-6

Guo2018 T

ASXL3

SD0061.p1

chr18:
31226219-31226219

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C257T

p.S86L

24.3

-

Guo2018 T

ASXL3

AU3646301

chr18:
31289484-31289484

G

C

intronic

De novo

-

Yuen2017 G

ASXL3

Cukier2014:37425

chr18:
31326012-31326012

T

G

exonic

Unknown

nonsynonymous SNV

NM_030632

c.T6200G

p.L2067R

16.01

0.0063

Cukier2014 E

ASXL3

1-0558-003

chr18:
31270346-31270346

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASXL3

ACGC_GX0024.p1

chr18:
31322990-31322990

C

T

exonic

Maternal

nonsynonymous SNV

NM_030632

c.C3178T

p.R1060W

17.8

8.402E-6

Wang2020 T

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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