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Results for "SORBS1"

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
SORBS1     Cukier2014:37425chr10:
97194397-97194397
CGexonicUnknownnonsynonymous SNVNM_001034954
NM_001034955
NM_001034956
NM_001290296
NM_001290298
NM_001290294
NM_024991
c.G154C
c.G154C
c.G154C
c.G154C
c.G154C
c.G154C
c.G154C
p.G52R
p.G52R
p.G52R
p.G52R
p.G52R
p.G52R
p.G52R
18.333.0E-4Cukier2014 E
SORBS1     1-0558-003chr10:
97351792-97351793
CACintergenicDe novo--Yuen2017 G
SORBS1     AU3635301chr10:
97128547-97128547
AGintronicDe novo--Yuen2017 G
SORBS1     1-0923-003chr10:
97341309-97341309
GCintergenicDe novo--Yuen2017 G
SORBS1     2-0240-004chr10:
97313280-97313280
TCintronicDe novo--Yuen2017 G
SORBS1     1-0835-003chr10:
97139041-97139041
GAintronicDe novo--Yuen2017 G
SORBS1     2-1380-003chr10:
97208972-97208972
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SORBS1     7-0068-003chr10:
97201156-97201158
TGGTGintronicDe novo--Yuen2017 G
SORBS1     PN400308chr10:
97141509-97141509
CTexonicUnknownnonsynonymous SNVNM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294
c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A
p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H
29.20.001Leblond2019 E
SORBS1     Bruno2021:XXIIIchr10:
97114672-97114672
TGexonicDe novononsynonymous SNVNM_001034957
NM_006434
NM_001290295
NM_001290297
NM_001290298
NM_015385
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294
c.A1299C
c.A1299C
c.A1326C
c.A1512C
c.A1617C
c.A1695C
c.A1422C
c.A1734C
c.A2091C
c.A2181C
c.A2247C
c.A2043C
p.E433D
p.E433D
p.E442D
p.E504D
p.E539D
p.E565D
p.E474D
p.E578D
p.E697D
p.E727D
p.E749D
p.E681D
18.9-Bruno2021 E
SORBS1     1-0393-003chr10:
97243111-97243111
TCintronicDe novo--Yuen2017 G
SORBS1     PN400587chr10:
97141509-97141509
CTexonicUnknownnonsynonymous SNVNM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294
c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A
p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H
29.20.001Leblond2019 E
SORBS1     2-1416-003chr10:
97175192-97175192
TCintronicDe novo-0.0074Yuen2017 G
SORBS1     A5chr10:
97319303-97319303
AGintronicDe novo--Wu2018 G
SORBS1     PN400590chr10:
97141509-97141509
CTexonicUnknownnonsynonymous SNVNM_001034957
NM_006434
NM_001290297
NM_001034956
NM_001290295
NM_001290296
NM_001290298
NM_015385
NM_024991
NM_001034954
NM_001034955
NM_001290294
c.G956A
c.G956A
c.G983A
c.G1241A
c.G983A
c.G1496A
c.G1190A
c.G1352A
c.G1079A
c.G1586A
c.G1652A
c.G1448A
p.R319H
p.R319H
p.R328H
p.R414H
p.R328H
p.R499H
p.R397H
p.R451H
p.R360H
p.R529H
p.R551H
p.R483H
29.20.001Leblond2019 E
SORBS1     2-0318-003chr10:
97244489-97244489
GTintronicDe novo--Yuen2017 G
SORBS1     13147.p1chr10:
97098949-97098951
CCACexonicDe novoframeshift deletionNM_006434
NM_001034957
NM_001290295
NM_001290297
NM_015385
NM_001290298
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294
c.1754_1755del
c.1922_1923del
c.1949_1950del
c.2135_2136del
c.2150_2151del
c.2240_2241del
c.2045_2046del
c.2357_2358del
c.2714_2715del
c.2804_2805del
c.2870_2871del
c.2666_2667del
p.V585fs
p.V641fs
p.V650fs
p.V712fs
p.V717fs
p.V747fs
p.V682fs
p.V786fs
p.V905fs
p.V935fs
p.V957fs
p.V889fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SORBS1     1-0389-004chr10:
97143711-97143711
CGintronicDe novo--Yuen2017 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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