Variant Results

or

Results for "HIVEP1"

Variant Events: 38

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

HIVEP1

2-1505-004

chr6:
12198254-12198254

C

T

intergenic

De novo

-

Yuen2017 G

HIVEP1

Wang2023:121

chr6:
12161977-12161977

T

G

exonic

De novo

nonsynonymous SNV

NM_002114

c.T6793G

p.S2265A

14.79

-

Wang2023 E

HIVEP1

1-0570-003

chr6:
12100757-12100757

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

AU4159301

chr6:
12119163-12119163

C

G

intronic

De novo

-

Yuen2017 G

HIVEP1

PN400230

chr6:
12124319-12124319

C

T

exonic

Unknown

nonsynonymous SNV

NM_002114

c.C4291T

p.R1431W

21.4

4.97E-5

Leblond2019 E

HIVEP1

SP0096662

chr6:
12120555-12120555

A

G

exonic

De novo

nonsynonymous SNV

NM_002114

c.A527G

p.N176S

5.592

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

14176.p1

chr6:
12121059-12121059

A

C

exonic

De novo

nonsynonymous SNV

NM_002114

c.A1031C

p.Q344P

16.65

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

HIVEP1

SP0127238

chr6:
12129995-12129995

G

A

exonic

De novo

nonsynonymous SNV

NM_002114

c.G6079A

p.A2027T

17.91

1.711E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

SP0008211

chr6:
12125884-12125884

G

A

exonic

De novo

synonymous SNV

NM_002114

c.G5856A

p.S1952S

-

8.283E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

SP0010338

chr6:
12123919-12123919

C

T

exonic

De novo

synonymous SNV

NM_002114

c.C3891T

p.S1297S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

AU015903

chr6:
12275219-12275219

C

T

intergenic

De novo

-

Yuen2017 G

HIVEP1

SP0075755

chr6:
12121149-12121149

A

G

exonic

De novo

nonsynonymous SNV

NM_002114

c.A1121G

p.Y374C

13.19

9.938E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

AU1795302

chr6:
12262337-12262337

C

T

intergenic

De novo

-

Yuen2017 G

HIVEP1

SP0018933

chr6:
12124053-12124053

C

G

exonic

De novo

nonsynonymous SNV

NM_002114

c.C4025G

p.A1342G

13.79

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

SP0087379

chr6:
12122786-12122786

G

C

exonic

De novo

nonsynonymous SNV

NM_002114

c.G2758C

p.D920H

19.67

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HIVEP1

AU2156303

chr6:
12161239-12161239

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

2-0109-003

chr6:
12029268-12029268

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

PN400232

chr6:
12124319-12124319

C

T

exonic

Unknown

nonsynonymous SNV

NM_002114

c.C4291T

p.R1431W

21.4

4.97E-5

Leblond2019 E

HIVEP1

AU046707

chr6:
12120831-12120831

C

G

exonic

De novo

nonsynonymous SNV

NM_002114

c.C803G

p.A268G

4.44

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

HIVEP1

2-1142-003

chr6:
12049792-12049792

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

AU3905301

chr6:
12131032-12131032

G

A

exonic

De novo

nonsynonymous SNV

NM_002114

c.G6242A

p.R2081Q

36.0

1.666E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

HIVEP1

AU2283301

chr6:
12086758-12086758

T

C

intronic

De novo

-

Trost2022 G

HIVEP1

AU4029301

chr6:
12125257-12125257

G

A

exonic

De novo

synonymous SNV

NM_002114

c.G5229A

p.S1743S

-

8.295E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

HIVEP1

MSSNG00423-003

chr6:
12128467-12128467

G

A

intronic

De novo

-

Trost2022 G

HIVEP1

MSSNG00421-008

chr6:
12025508-12025508

G

A

intronic

De novo

-

Trost2022 G

HIVEP1

7-0357-003

chr6:
12029442-12029442

A

C

intronic

De novo

-

Trost2022 G

HIVEP1

PN400231

chr6:
12124319-12124319

C

T

exonic

Unknown

nonsynonymous SNV

NM_002114

c.C4291T

p.R1431W

21.4

4.97E-5

Leblond2019 E

HIVEP1

Cukier2014:37024

chr6:
12163802-12163802

G

A

exonic

Unknown

nonsynonymous SNV

NM_002114

c.G7265A

p.G2422E

23.2

3.0E-4

Cukier2014 E

HIVEP1

AU3874302

chr6:
12052219-12052219

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

MT_86.3

chr6:
12122978-12122978

G

A

exonic

De novo

nonsynonymous SNV

NM_002114

c.G2950A

p.E984K

29.9

-

Trost2022 G
Zhou2022 GE

HIVEP1

3-0485-000A

chr6:
12121493-12121493

G

A

exonic

De novo

nonsynonymous SNV

NM_002114

c.G1465A

p.V489I

3.308

2.495E-5

Trost2022 G
Zhou2022 GE

HIVEP1

122569

chr6:
12121555-12121555

C

A

exonic

De novo

synonymous SNV

NM_002114

c.C1527A

p.G509G

-

8.314E-6

Fu2022 E

HIVEP1

SSC10874

chr6:
12121059-12121059

A

C

exonic

De novo

nonsynonymous SNV

NM_002114

c.A1031C

p.Q344P

16.65

-

Fu2022 E
Trost2022 G

HIVEP1

14390.p1

chr6:
12221026-12221026

C

A

intergenic

De novo

-

Werling2018 G

HIVEP1

5-0073-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

HIVEP1

80001101237

chr6:
12163712-12163712

C

T

exonic

De novo

nonsynonymous SNV

NM_002114

c.C7175T

p.S2392L

22.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HIVEP1

NDAR_INVXK925MMP_wes1

chr6:
12123505-12123505

A

G

exonic

De novo

synonymous SNV

NM_002114

c.A3477G

p.P1159P

-

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

HIVEP1

NDAR_INVHK229EUH_wes1

chr6:
12164097-12164097

C

T

exonic

De novo

synonymous SNV

NM_002114

c.C7560T

p.V2520V

-

7.454E-5

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

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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