Variant Results

or

Results for "HIVEP3"

Variant Events: 61

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

HIVEP3

13874.p1

chr1:
42138750-42138750

C

A

intronic

De novo

-

Turner2016 G

HIVEP3

11940.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001127714
NM_024503
NM_001127714
NM_024503

c.1753dupC
c.1753dupC
c.1752dupC
c.1752dupC

p.R585fs
p.R585fs
p.R585fs
p.R585fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

HIVEP3

1-0440-003

chr1:
42384202-42384202

C

T

UTR5

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

SSC03535

chr1:
42048715-42048715

C

CG

exonic

De novo

frameshift insertion

NM_001127714
NM_024503

c.1753dupC
c.1753dupC

p.R585fs
p.R585fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

HIVEP3

mAGRE4663

chr1:
41978750-41978750

G

A

exonic

Paternal

stopgain

NM_001127714
NM_024503

c.C6142T
c.C6142T

p.R2048X
p.R2048X

49.0

2.0E-4

Cirnigliaro2023 G

HIVEP3

mAGRE1245

chr1:
41976742-41976742

G

A

exonic

De novo

stopgain

NM_001127714
NM_024503

c.C6598T
c.C6601T

p.Q2200X
p.Q2201X

51.0

-

Cirnigliaro2023 G

HIVEP3

AU4483301

chr1:
42154650-42154650

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

AU058103

chr1:
42054954-42054954

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

SP0247721

chr1:
41978560-41978560

C

T

exonic

De novo

nonsynonymous SNV

NM_001127714
NM_024503

c.G6332A
c.G6332A

p.R2111Q
p.R2111Q

6.907

-

Trost2022 G

HIVEP3

A31

chr1:
42421728-42421728

C

A

intergenic

De novo

-

Wu2018 G

HIVEP3

2-1238-003

chr1:
41973672-41973672

T

C

UTR3

De novo

-

Trost2022 G

HIVEP3

1-0382-003

chr1:
42148327-42148327

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

SP0080404

chr1:
42047698-42047698

G

T

exonic

De novo

nonsynonymous SNV

NM_001127714
NM_024503

c.C2771A
c.C2771A

p.S924Y
p.S924Y

23.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP3

7-0307-003

chr1:
42094525-42094525

G

A

UTR5

De novo

-

Trost2022 G

HIVEP3

5-0086-003

chr1:
42087148-42087148

C

A

intronic

De novo

-

Trost2022 G

HIVEP3

MSSNG00258-003

chr1:
42149886-42149886

C

A

intronic

De novo

-

Trost2022 G

HIVEP3

1-0153-005A

chr1:
42141681-42141681

C

T

intronic

De novo

-

Trost2022 G

HIVEP3

5-5223-003

chr1:
42017015-42017015

T

TG

intronic

De novo

-

Trost2022 G

HIVEP3

3-0215-000

chr1:
42010410-42010410

C

G

intronic

De novo

-

Trost2022 G

HIVEP3

1-1179-003

chr1:
42077760-42077760

A

C

intronic

De novo

-

Trost2022 G

HIVEP3

2-0733-003

chr1:
42071276-42071276

A

AAT

intronic

De novo

-

Trost2022 G

HIVEP3

REACH000159

chr1:
42257852-42257852

T

C

intronic

De novo

-

Trost2022 G

HIVEP3

2-1406-003

chr1:
42002622-42002622

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

HIVEP3

1-1063-003

chr1:
42241804-42241804

A

C

intronic

De novo

-

Trost2022 G

HIVEP3

G01-GEA-167-HI

chr1:
41978764-41978764

C

T

exonic

De novo

nonsynonymous SNV

NM_001127714
NM_024503

c.G6128A
c.G6128A

p.R2043K
p.R2043K

13.98

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HIVEP3

SJD_46.3

chr1:
42317797-42317797

C

T

intronic

De novo

-

Trost2022 G

HIVEP3

3-0345-000

chr1:
42304208-42304208

C

T

intronic

De novo

-

Trost2022 G

HIVEP3

4-0062-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

HIVEP3

3-0180-000

chr1:
42162060-42162060

T

G

intronic

De novo

-

Trost2022 G

HIVEP3

MSSNG00055-003

chr1:
42231911-42231911

A

C

intronic

De novo

-

Trost2022 G

HIVEP3

AU4231301

chr1:
42414551-42414551

C

A

intergenic

De novo

-

Yuen2017 G

HIVEP3

MSSNG00038-003

chr1:
42216521-42216521

G

A

intronic

De novo

-

Trost2022 G

HIVEP3

1-0683-003

chr1:
42473417-42473417

A

G

intergenic

De novo

-

Yuen2017 G

HIVEP3

11010.p1

chr1:
42046980-42046980

G

A

exonic

Mosaic

synonymous SNV

NM_001127714
NM_024503

c.C3489T
c.C3489T

p.F1163F
p.F1163F

-

Dou2017 E

HIVEP3

MT_33.3

chr1:
42348475-42348475

A

C

intronic

De novo

-

Trost2022 G

HIVEP3

3-0176-000

chr1:
42339999-42339999

T

A

intronic

De novo

-

Trost2022 G

HIVEP3

03C16243

chr1:
41976742-41976742

G

A

exonic

De novo

stopgain

NM_001127714
NM_024503

c.C6598T
c.C6601T

p.Q2200X
p.Q2201X

51.0

-

Stessman2017 T

HIVEP3

PN400213

chr1:
42047450-42047450

C

T

exonic

Unknown

nonsynonymous SNV

NM_001127714
NM_024503

c.G3019A
c.G3019A

p.E1007K
p.E1007K

32.0

2.0E-4

Leblond2019 E

HIVEP3

AU035204

chr1:
41976742-41976742

G

A

exonic

De novo

stopgain

NM_001127714
NM_024503

c.C6598T
c.C6601T

p.Q2200X
p.Q2201X

51.0

-

Stessman2017 T
Stessman2017 T

HIVEP3

7-0082-003

chr1:
42280598-42280598

C

CTTTTTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

4-0062-003

chr1:
42364597-42364598

CA

TT

intronic

De novo

-

Trost2022 G

HIVEP3

2-1242-003

chr1:
42030207-42030207

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

HIVEP3

5-0077-004

chr1:
42215491-42215491

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

767_16au

chr1:
42046551-42046551

G

A

exonic

De novo

synonymous SNV

NM_001127714
NM_024503

c.C3918T
c.C3918T

p.A1306A
p.A1306A

-

8.708E-6

Fu2022 E

HIVEP3

GEA347

chr1:
41990455-41990455

G

A

exonic

De novo

synonymous SNV

NM_001127714
NM_024503

c.C5334T
c.C5334T

p.D1778D
p.D1778D

-

3.3E-5

Fu2022 E

HIVEP3

PN400321

chr1:
41984079-41984079

C

T

exonic

Unknown

nonsynonymous SNV

NM_001127714
NM_024503

c.G5464A
c.G5464A

p.E1822K
p.E1822K

25.4

4.0E-4

Leblond2019 E

HIVEP3

iHART1245

chr1:
41976742-41976742

G

A

exonic

De novo

stopgain

NM_001127714
NM_024503

c.C6598T
c.C6601T

p.Q2200X
p.Q2201X

51.0

-

Ruzzo2019 G

HIVEP3

7-0128-003

chr1:
42296864-42296864

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

PN400297

chr1:
42047450-42047450

C

T

exonic

Unknown

nonsynonymous SNV

NM_001127714
NM_024503

c.G3019A
c.G3019A

p.E1007K
p.E1007K

32.0

2.0E-4

Leblond2019 E

HIVEP3

2-1350-003

chr1:
42409717-42409717

T

G

intergenic

De novo

-

Yuen2017 G

HIVEP3

AU066104

chr1:
42273829-42273829

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

AU3399302

chr1:
42456236-42456236

C

A

intergenic

De novo

-

Yuen2017 G

HIVEP3

M08680

chr1:
41976726-41976726

C

T

exonic

Maternal

nonsynonymous SNV

NM_001127714
NM_024503

c.G6614A
c.G6617A

p.R2205Q
p.R2206Q

31.0

1.66E-5

Guo2018 T
Wang2016 T

HIVEP3

M08539

chr1:
41976751-41976751

C

T

exonic

Maternal

nonsynonymous SNV

NM_001127714
NM_024503

c.G6589A
c.G6592A

p.G2197S
p.G2198S

31.0

8.281E-6

Guo2018 T
Wang2016 T

HIVEP3

74-0352

chr1:
41976742-41976742

G

A

exonic

De novo

stopgain

NM_001127714
NM_024503

c.C6598T
c.C6601T

p.Q2200X
p.Q2201X

51.0

-

Michaelson2012 G

HIVEP3

1-0269-003

chr1:
42098346-42098346

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP3

13028.p1

chr1:
42118663-42118663

T

C

intronic

De novo

-

Wilfert2021 G

HIVEP3

2-1442-003

chr1:
42442446-42442446

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HIVEP3

07C65492

chr1:
42048494-42048494

C

T

exonic

Unknown

nonsynonymous SNV

NM_001127714
NM_024503

c.G1975A
c.G1975A

p.E659K
p.E659K

34.0

4.118E-5

Stessman2017 T

HIVEP3

M13300

chr1:
41979349-41979349

G

A

exonic

Unknown

nonsynonymous SNV

NM_001127714
NM_024503

c.C5543T
c.C5543T

p.S1848L
p.S1848L

35.0

8.508E-6

Guo2018 T
Wang2016 T

HIVEP3

HN0012.p1

chr1:
41979410-41979410

C

T

exonic

Maternal

nonsynonymous SNV

NM_001127714
NM_024503

c.G5482A
c.G5482A

p.D1828N
p.D1828N

33.0

3.674E-5

Guo2018 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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