Variant Results

or

Results for "BIRC6"

Variant Events: 47

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

BIRC6

10C116035

chr2:
32640862-32640862

C

G

exonic

De novo

nonsynonymous SNV

NM_016252

c.C2503G

p.R835G

15.97

-

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

BIRC6

4-0084-003

chr2:
32685841-32685841

C

T

intronic

De novo

-

Trost2022 G

BIRC6

DEASD_0255_001

chr2:
32656133-32656133

C

T

exonic

De novo

stopgain

NM_016252

c.C3223T

p.R1075X

38.0

-

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

BIRC6

AU2310301

chr2:
32674606-32674606

C

T

intronic

De novo

-

Trost2022 G

BIRC6

1-0347-003

chr2:
32719040-32719047

TTAAACTC

T

intronic

De novo

-

Trost2022 G

BIRC6

SP0040315

chr2:
32688457-32688457

A

G

intronic

De novo

-

Trost2022 G

BIRC6

2-1090-003

chr2:
32602821-32602821

A

C

exonic

nonsynonymous SNV

NM_016252

c.A491C

p.E164A

23.7

-

Zhou2022 GE

BIRC6

2-1522-003

chr2:
32758741-32758741

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

12837.p1

chr2:
32730150-32730150

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_016252

c.G9578C

p.R3193P

34.0

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Turner2017 G
Zhou2022 GE

BIRC6

1-0680-003

chr2:
32619242-32619242

G

T

intronic

De novo

-

Trost2022 G

BIRC6

4-0034-003

chr2:
32740419-32740419

T

G

exonic

De novo

nonsynonymous SNV

NM_016252

c.T10931G

p.F3644C

11.6

8.264E-6

Trost2022 G
Zhou2022 GE

BIRC6

7-0059-003

chr2:
32613519-32613520

TC

AT

intronic

De novo

-

Trost2022 G

BIRC6

AU1933301

chr2:
32693617-32693617

G

T

exonic

Paternal

stopgain

NM_016252

c.G5893T

p.E1965X

47.0

3.296E-5

Cirnigliaro2023 G

BIRC6

3-0244-000

chr2:
32844825-32844825

A

G

downstream

De novo

-

Trost2022 G

BIRC6

AU2140305

chr2:
32800700-32800700

C

T

intronic

De novo

-

Trost2022 G

BIRC6

1-1010-003

chr2:
32739018-32739018

G

A

intronic

De novo

-

Trost2022 G

BIRC6

AU2288301

chr2:
32724464-32724464

A

T

intronic

De novo

-

Trost2022 G

BIRC6

5-5065-003

chr2:
32755772-32755772

A

T

intronic

De novo

-

Trost2022 G

BIRC6

REACH000713

chr2:
32751302-32751302

C

T

intronic

De novo

-

Trost2022 G

BIRC6

13720.p1

chr2:
32689829-32689829

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_016252

c.G5194C

p.V1732L

17.22

-

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

BIRC6

AU045010

chr2:
32762102-32762102

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

7-0058-003

chr2:
32635023-32635023

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

SSC05861

chr2:
32730150-32730150

G

C

exonic

Mosaic

nonsynonymous SNV

NM_016252

c.G9578C

p.R3193P

34.0

-

Lim2017 E

BIRC6

SSC06522

chr2:
32658756-32658756

C

G

exonic

De novo

nonsynonymous SNV

NM_016252

c.C3293G

p.A1098G

16.82

-

Fu2022 E
Lim2017 E
Trost2022 G

BIRC6

1-0218-004

chr2:
32719040-32719047

TTAAACTC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

iHART1662

chr2:
32605224-32605224

C

T

exonic

Paternal

stopgain

NM_016252

c.C511T

p.Q171X

37.0

-

Ruzzo2019 G

BIRC6

iHART2670

chr2:
32693617-32693617

G

T

exonic

Paternal

stopgain

NM_016252

c.G5893T

p.E1965X

47.0

3.296E-5

Ruzzo2019 G

BIRC6

13539.p1

chr2:
32736580-32736580

G

T

intronic

De novo

-

Turner2016 G

BIRC6

iHART1661

chr2:
32605224-32605224

C

T

exonic

Paternal

stopgain

NM_016252

c.C511T

p.Q171X

37.0

-

Ruzzo2019 G

BIRC6

11935.p1

chr2:
32718600-32718600

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BIRC6

AU1988302

chr2:
32683181-32683181

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

SP0067907

chr2:
32738216-32738216

C

G

exonic

De novo

synonymous SNV

NM_016252

c.C10563G

p.L3521L

-

Fu2022 E
Zhou2022 GE

BIRC6

12792.p1

chr2:
32707616-32707616

C

T

exonic

De novo

synonymous SNV

NM_016252

c.C7662T

p.N2554N

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

BIRC6

G01-GEA-284-HI

chr2:
32744029-32744029

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

BIRC6

12972.p1

chr2:
32658756-32658756

C

G

exonic

De novo

nonsynonymous SNV

NM_016252

c.C3293G

p.A1098G

16.82

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BIRC6

AU079104

chr2:
32662949-32662949

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

SSC08841

chr2:
32667157-32667158

GT

G

exonic

De novo

frameshift deletion

NM_016252

c.3970delT

p.F1324fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

BIRC6

13770.p1

chr2:
32667157-32667158

GT

G

exonic

De novo

frameshift deletion

NM_016252

c.3970delT

p.F1324fs

-

Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BIRC6

AU3997302

chr2:
32664575-32664575

G

C

splicing

Paternal

splicing

21.9

1.697E-5

Cirnigliaro2023 G

BIRC6

mAGRE1662

chr2:
32605224-32605224

C

T

exonic

Paternal

stopgain

NM_016252

c.C511T

p.Q171X

37.0

-

Cirnigliaro2023 G

BIRC6

mAGRE1661

chr2:
32605224-32605224

C

T

exonic

Paternal

stopgain

NM_016252

c.C511T

p.Q171X

37.0

-

Cirnigliaro2023 G

BIRC6

7-0012-003

chr2:
32729395-32729395

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

DEASD_2132_001

chr2:
32693030-32693030

T

C

exonic

De novo

synonymous SNV

NM_016252

c.T5631C

p.F1877F

-

Fu2022 E

BIRC6

3-0307-000

chr2:
32771152-32771152

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BIRC6

13720_p1

chr2:
32689829-32689829

G

C

exonic

De novo

nonsynonymous SNV

NM_016252

c.G5194C

p.V1732L

17.22

-

Fu2022 E

BIRC6

11935_p1

chr2:
32718600-32718600

T

C

intronic

De novo

-

Fu2022 E

BIRC6

SSC05830

chr2:
32707616-32707616

C

T

exonic

De novo

synonymous SNV

NM_016252

c.C7662T

p.N2554N

-

Fu2022 E
Trost2022 G

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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