Variant Results

or

Results for "AHNAK"

Variant Events: 56

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

AHNAK

ACGC_SD0030.p1

chr11:
62284793-62284795

TCG

T

exonic

Paternal

frameshift deletion

NM_001620

c.17094_17095del

p.G5698fs

-

8.277E-6

Wang2020 T

AHNAK

ACGC_GX0442.p1

chr11:
62284793-62284795

TCG

T

exonic

Maternal

frameshift deletion

NM_001620

c.17094_17095del

p.G5698fs

-

8.277E-6

Wang2020 T

AHNAK

Leuven_62742457

chr11:
62303416-62303416

C

A

splicing

Unknown

splicing

22.4

-

Wang2020 T

AHNAK

ITAN_1435

chr11:
62286117-62286117

G

A

exonic

Paternal

stopgain

NM_001620

c.C15772T

p.Q5258X

56.0

-

Wang2020 T

AHNAK

Leuven2_60398416

chr11:
62284554-62284554

G

A

exonic

Unknown

nonsynonymous SNV

NM_001620

c.C17335T

p.R5779C

15.62

8.26E-6

Wang2020 T

AHNAK

TASC_217-14061-1040

chr11:
62259224-62259224

G

C

exonic

Paternal

stopgain

NM_024060

c.C422G

p.S141X

17.29

3.29E-5

Wang2020 T

AHNAK

GX0189.p1

chr11:
62286312-62286312

G

A

exonic

Maternal

stopgain

NM_001620

c.C15577T

p.Q5193X

56.0

-

Guo2018 T

AHNAK

ACGC_M20567

chr11:
62285076-62285078

CAG

C

exonic

Maternal

frameshift deletion

NM_001620

c.16811_16812del

p.S5604fs

-

Wang2020 T

AHNAK

ACGC_GD0058.p1

chr11:
62293941-62293941

C

A

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G7948T

p.G2650C

19.36

-

Wang2020 T

AHNAK

GX0442.p1

chr11:
62284793-62284795

TCG

T

exonic

Maternal

frameshift deletion

NM_001620

c.17094_17095del

p.G5698fs

-

8.277E-6

Guo2018 T

AHNAK

ACGC_SD0030.p1

chr11:
62293809-62293809

T

TA

exonic

Maternal

stopgain

NM_001620

c.8079dupT

p.K2694_F2695delinsX

-

Wang2020 T

AHNAK

ACGC_HN0174.p1

chr11:
62303561-62303561

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620
NM_024060

c.G10A
c.G10A

p.E4K
p.E4K

21.3

8.886E-6

Wang2020 T

AHNAK

ACGC_M17634

chr11:
62288308-62288309

AT

A

exonic

Maternal

frameshift deletion

NM_001620

c.13580delA

p.N4527fs

-

Wang2020 T

AHNAK

ACGC_M23705

chr11:
62303548-62303548

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620
NM_024060

c.G23A
c.G23A

p.R8Q
p.R8Q

27.6

-

Wang2020 T

AHNAK

SP0009908

chr11:
62286302-62286302

A

G

exonic

De novo

nonsynonymous SNV

NM_001620

c.T15587C

p.I5196T

10.84

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AHNAK

AGRE_AU1087301

chr11:
62288250-62288250

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G13639A

p.D4547N

17.04

8.239E-6

Wang2020 T

AHNAK

SF0009908.p1

chr11:
62286302-62286302

A

G

exonic

nonsynonymous SNV

NM_001620

c.T15587C

p.I5196T

10.84

-

Wang2020 T

AHNAK

M20268

chr11:
62284524-62284526

ACT

A

exonic

Maternal

frameshift deletion

NM_001620

c.17363_17364del

p.E5788fs

-

Wang2016 T

AHNAK

ACGC_GX0189.p1

chr11:
62286312-62286312

G

A

exonic

Maternal

stopgain

NM_001620

c.C15577T

p.Q5193X

56.0

-

Wang2020 T

AHNAK

AGRE_AU083003

chr11:
62284553-62284553

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G17336A

p.R5779H

18.31

9.084E-5

Wang2020 T

AHNAK

Gecz4_GD_13_0167

chr11:
62301495-62301495

G

A

exonic

Unknown

nonsynonymous SNV

NM_001620

c.C394T

p.R132W

22.0

-

Wang2020 T

AHNAK

AGRE_AU0903301

chr11:
62288250-62288250

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G13639A

p.D4547N

17.04

8.239E-6

Wang2020 T

AHNAK

SP0084858

chr11:
62286903-62286903

G

A

exonic

De novo

synonymous SNV

NM_001620

c.C14986T

p.L4996L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AHNAK

SP0142324

chr11:
62285731-62285731

G

A

exonic

De novo

synonymous SNV

NM_001620

c.C16158T

p.S5386S

-

4.943E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

AHNAK

SP0045097

chr11:
62303362-62303362

A

T

intronic

De novo

-

Fu2022 E

AHNAK

G01-GEA-132-HI

chr11:
62297933-62297933

T

C

exonic

De novo

nonsynonymous SNV

NM_001620

c.A3956G

p.K1319R

11.99

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AHNAK

217-14061-1040

chr11:
62259224-62259224

G

C

exonic

Paternal

stopgain

NM_024060

c.C422G

p.S141X

17.29

3.29E-5

Stessman2017 T

AHNAK

M21477

chr11:
62295843-62295843

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G6046A

p.G2016S

34.0

-

Guo2018 T
Wang2016 T

AHNAK

AU083003

chr11:
62284553-62284553

C

T

exonic

Unknown

nonsynonymous SNV

NM_001620

c.G17336A

p.R5779H

18.31

9.084E-5

Stessman2017 T

AHNAK

1-0495-003

chr11:
62293912-62293912

A

G

exonic

De novo

synonymous SNV

NM_001620

c.T7977C

p.D2659D

-

8.236E-6

Yuen2017 G
Zhou2022 GE

AHNAK

SD0030.p1

chr11:
62293809-62293809

T

TA

exonic

Maternal

stopgain

NM_001620

c.8079dupT

p.K2694_F2695delinsX

-

Guo2018 T

AHNAK

DEASD_0055_001

chr11:
62297085-62297085

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_001620

c.C4804T

p.P1602S

13.01

-

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

AHNAK

ASDFI_1049

chr11:
62302541-62302541

G

A

exonic

De novo

synonymous SNV

NM_001620
NM_024060

c.C276T
c.C276T

p.R92R
p.R92R

-

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

AHNAK

AU3808304

chr11:
62313260-62313260

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AHNAK

M23749

chr11:
62302513-62302513

G

A

exonic

Unknown

nonsynonymous SNV

NM_001620
NM_024060

c.C304T
c.C304T

p.R102C
p.R102C

18.24

4.998E-5

Stessman2017 T

AHNAK

2-1723-003

chr11:
62264842-62264843

CA

AG

intronic

De novo

-

Trost2022 G

AHNAK

4-0037-004

chr11:
62288905-62288905

T

G

exonic

De novo

synonymous SNV

NM_001620

c.A12984C

p.G4328G

-

Trost2022 G

AHNAK

2-1548-003

chr11:
62217228-62217228

G

A

intronic

De novo

-

Trost2022 G

AHNAK

7-0344-003

chr11:
62235088-62235088

C

T

intronic

De novo

-

Trost2022 G

AHNAK

SSC11936

chr11:
62285724-62285724

C

T

exonic

De novo

nonsynonymous SNV

NM_001620

c.G16165A

p.A5389T

10.76

-

Fu2022 E
Lim2017 E
Trost2022 G

AHNAK

SD0030.p1

chr11:
62284793-62284795

TCG

T

exonic

Paternal

frameshift deletion

NM_001620

c.17094_17095del

p.G5698fs

-

8.277E-6

Guo2018 T

AHNAK

641-05-104712

chr11:
62284581-62284582

AG

A

exonic

De novo

frameshift deletion

NM_001620

c.17307delC

p.S5769fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AHNAK

SAGE_532.101

chr11:
62286009-62286009

T

TA

exonic

Unknown

frameshift insertion

NM_001620

c.15879dupT

p.M5294fs

-

Wang2020 T

AHNAK

3-0080-000

chr11:
62267720-62267720

A

G

intronic

De novo

-

Yuen2016 G

AHNAK

4-0037-004

chr11:
62288908-62288908

T

A

exonic

De novo

synonymous SNV

NM_001620

c.A12981T

p.P4327P

-

Trost2022 G

AHNAK

5-5030-003

chr11:
62314159-62314159

A

G

UTR5

De novo

-

Trost2022 G

AHNAK

M17634

Complex Event; expand row to view variants

Maternal

frameshift deletion

NM_001620
NM_001620

c.13579delA
c.13579_13580del

p.N4527fs
p.N4527fs

-

Guo2018 T
Stessman2017 T
Wang2016 T

AHNAK

M20684

Complex Event; expand row to view variants

Maternal

frameshift deletion

NM_001620
NM_001620

c.17363_17364del
c.17358_17364del

p.E5788fs
p.E5786fs

-

Stessman2017 T
Wang2016 T

AHNAK

Leuven_259357

chr11:
62286478-62286479

CT

C

exonic

Unknown

frameshift deletion

NM_001620

c.15410delA

p.K5137fs

-

Wang2020 T

AHNAK

M20567

Complex Event; expand row to view variants

Maternal

frameshift deletion, nonframeshift deletion

NM_001620
NM_001620

c.16810_16811del
c.16811_16813del

p.S5604fs
p.5604_5605del

-

Guo2018 T
Stessman2017 T
Wang2016 T

AHNAK

Leuven_329407

Complex Event; expand row to view variants

Unknown

frameshift deletion, frameshift substitution

NM_001620
NM_001620

c.16311_16321del
c.16311_16323AA

p.G5437fs
N/A

-

Wang2020 T
Wang2020 T

AHNAK

14351.p1

chr11:
62285724-62285724

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001620

c.G16165A

p.A5389T

10.76

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

AHNAK

Leuven_318663

chr11:
62302554-62302554

C

A

exonic

Unknown

nonsynonymous SNV

NM_001620
NM_024060

c.G263T
c.G263T

p.R88L
p.R88L

25.9

-

Wang2020 T

AHNAK

TASC_210-18128-301

chr11:
62298073-62298073

T

TCGGCC

exonic

Unknown

frameshift insertion

NM_001620

c.3815_3816insGGCCG

p.R1272fs

-

Wang2020 T

AHNAK

ITAN_789

chr11:
62302555-62302555

G

A

exonic

Maternal

nonsynonymous SNV

NM_001620
NM_024060

c.C262T
c.C262T

p.R88C
p.R88C

21.8

3.323E-5

Wang2020 T

AHNAK

SanDiego_01062-Y4A8Z

chr11:
62284762-62284762

C

CT

exonic

Unknown

frameshift insertion

NM_001620

c.17126dupA

p.K5709fs

-

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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