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Results for "SGSM3"

Variant Events: 18

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
SGSM3     Lim2017:5420chr22:
40802589-40802589
CTexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.C919T
c.C1108T
p.R307C
p.R370C
23.63.508E-5Lim2017 E
SGSM3     1-0467-005chr22:
40766509-40766509
GTupstreamDe novo--Yuen2017 G
SGSM3     1-0820-003chr22:
40801424-40801424
CTintronicDe novo--Yuen2017 G
SGSM3     13625.p1chr22:
40802668-40802668
TCsplicingPaternalsplicing15.09-O’Roak2012a T
SGSM3     2-1116-003chr22:
40778680-40778680
CTintronicDe novo--Yuen2017 G
SGSM3     G01-GEA-28-HIchr22:
40804607-40804611
TCACATintronicDe novo--Satterstrom2020 E
SGSM3     iHART3023chr22:
40802461-40802461
CCAexonicMaternalframeshift insertionNM_001301849
NM_015705
c.792dupA
c.981dupA
p.S264fs
p.S327fs
-4.0E-4Ruzzo2019 G
SGSM3     12637.p1chr22:
40804702-40804702
GAsplicingPaternalsplicing14.72-O’Roak2012a T
SGSM3     1-0433-004chr22:
40773817-40773817
GAintronicDe novo--Yuen2017 G
SGSM3     Lim2017:11619chr22:
40803493-40803493
GAexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.G1256A
c.G1445A
p.R419Q
p.R482Q
21.18.478E-6Lim2017 E
SGSM3     5420chr22:
40802589-40802589
CTexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.C919T
c.C1108T
p.R307C
p.R370C
23.63.508E-5Fu2022 E
SGSM3     11523.p1chr22:
40802589-40802589
CTexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.C919T
c.C1108T
p.R307C
p.R370C
23.63.508E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
SGSM3     12791.p1chr22:
40804965-40804965
AGexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.A1664G
c.A1931G
p.D555G
p.D644G
16.34-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
O’Roak2012a T
Satterstrom2020 E
SGSM3     12791_p1chr22:
40804965-40804965
AGexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.A1664G
c.A1931G
p.D555G
p.D644G
16.34-Fu2022 E
SGSM3     11619chr22:
40803493-40803493
GAexonicDe novononsynonymous SNVNM_001301849
NM_015705
c.G1256A
c.G1445A
p.R419Q
p.R482Q
21.18.478E-6Fu2022 E
Satterstrom2020 E
SGSM3     1-0186-005chr22:
40795027-40795028
ACAintronicDe novo--Yuen2017 G
SGSM3     AN09714chr22:
40801735-40801735
CTexonicUnknownnonsynonymous SNVNM_001301849
NM_015705
c.C512T
c.C701T
p.A171V
p.A234V
13.778.263E-6D’Gama2015 T
SGSM3     AU3918302chr22:
40804749-40804749
CTintronicDe novo-8.264E-6Yuen2017 G
Source Variant Information

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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 notesView
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