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Results for "BIRC6"

Variant Events: 23

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     10C116035chr2:
32640862-32640862
CGexonicDe novononsynonymous SNVNM_016252c.C2503Gp.R835G15.97-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
BIRC6     iHART1662chr2:
32605224-32605224
CTexonicPaternalstopgainNM_016252c.C511Tp.Q171X37.0-Ruzzo2019 G
BIRC6     DEASD_0255_001chr2:
32656133-32656133
CTexonicDe novostopgainNM_016252c.C3223Tp.R1075X38.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
BIRC6     iHART2670chr2:
32693617-32693617
GTexonicPaternalstopgainNM_016252c.G5893Tp.E1965X47.03.296E-5Ruzzo2019 G
BIRC6     13539.p1chr2:
32736580-32736580
GTintronicDe novo--Turner2016 G
BIRC6     iHART1661chr2:
32605224-32605224
CTexonicPaternalstopgainNM_016252c.C511Tp.Q171X37.0-Ruzzo2019 G
BIRC6     11935.p1chr2:
32718600-32718600
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BIRC6     AU1988302chr2:
32683181-32683181
CTintronicDe novo--Yuen2017 G
BIRC6     2-1522-003chr2:
32758741-32758741
CTintronicDe novo--Yuen2017 G
BIRC6     12837.p1chr2:
32730150-32730150
GCexonicMosaic, De novononsynonymous SNVNM_016252c.G9578Cp.R3193P34.0-Ji2016 E
Krumm2015 E
Krupp2017 E
Turner2017 G
BIRC6     12792.p1chr2:
32707616-32707616
CTexonicDe novosynonymous SNVNM_016252c.C7662Tp.N2554N--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
BIRC6     13720.p1chr2:
32689829-32689829
GCexonicMosaic, De novononsynonymous SNVNM_016252c.G5194Cp.V1732L17.22-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
BIRC6     G01-GEA-284-HIchr2:
32744029-32744029
GAintronicDe novo--Satterstrom2020 E
BIRC6     12972.p1chr2:
32658756-32658756
CGexonicDe novononsynonymous SNVNM_016252c.C3293Gp.A1098G16.82-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
BIRC6     AU045010chr2:
32762102-32762102
ATintronicDe novo--Yuen2017 G
BIRC6     7-0058-003chr2:
32635023-32635023
CGintronicDe novo--Yuen2017 G
BIRC6     SSC05861chr2:
32730150-32730150
GCexonicMosaicnonsynonymous SNVNM_016252c.G9578Cp.R3193P34.0-Lim2017 E
BIRC6     AU079104chr2:
32662949-32662949
GAintronicDe novo--Yuen2017 G
BIRC6     SSC06522chr2:
32658756-32658756
CGexonicDe novononsynonymous SNVNM_016252c.C3293Gp.A1098G16.82-Lim2017 E
BIRC6     1-0218-004chr2:
32719040-32719047
TTAAACTCTintronicDe novo--Yuen2017 G
BIRC6     13770.p1chr2:
32667157-32667158
GTGexonicDe novoframeshift deletionNM_016252c.3970delTp.F1324fs--Satterstrom2020 E
Wilfert2021 G
BIRC6     7-0012-003chr2:
32729395-32729395
AGintronicDe novo--Yuen2017 G
BIRC6     3-0307-000chr2:
32771152-32771152
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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 notesView
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