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Results for "SOCS2"

Variant Events: 13

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
SOCS2     1-0414-005chr12:
94043208-94043208
ACintergenicDe novo--Yuen2017 G
SOCS2     AU1448301chr12:
94052634-94052634
CTintergenicDe novo--Yuen2017 G
SOCS2     AU4168306chr12:
94040229-94040229
AGintergenicDe novo--Yuen2017 G
SOCS2     2-1444-003chr12:
93973740-93973740
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SOCS2     SP0001492chr12:
93966820-93966820
GAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
SOCS2     1-0507-003chr12:
94050145-94050145
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SOCS2     SP0076055chr12:
93966711-93966711
GAexonicDe novononsynonymous SNVNM_001270471
NM_001270467
NM_001270468
NM_001270469
NM_001270470
NM_003877
c.G38A
c.G38A
c.G38A
c.G38A
c.G38A
c.G38A
p.G13E
p.G13E
p.G13E
p.G13E
p.G13E
p.G13E
16.55-Fu2022 E
Trost2022 G
Zhou2022 GE
SOCS2     2-0129-004chr12:
93973860-93973860
GAintergenicDe novo--Yuen2017 G
SOCS2     2-1511-003chr12:
94025518-94025531
TTATATATATATATTTATATATATATATATintergenicDe novo--Yuen2017 G
SOCS2     1-0265-003chr12:
94018838-94018838
CTintergenicDe novo--Yuen2017 G
SOCS2     12733.p1chr12:
93965228-93965228
CTintronicDe novo--Wilfert2021 G
SOCS2     1-0265-004chr12:
94018838-94018838
CTintergenicDe novo--Yuen2017 G
SOCS2     AU008505chr12:
94002521-94002521
AGintergenicDe 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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