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Results for "SLC9C2"

Variant Events: 7

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
SLC9C2     IGM1571557chr1:
173556892-173556892
ACexonicDe novononsynonymous SNVNM_178527c.T435Gp.D145E11.15-Satterstrom2020 E
SLC9C2     13365.p1chr1:
173490530-173490530
GAexonicDe novosynonymous SNVNM_178527c.C2649Tp.A883A--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SLC9C2     09C87173chr1:
173493166-173493166
AGexonicDe novononsynonymous SNVNM_178527c.T2582Cp.I861T7.386-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SLC9C2     iHART2412chr1:
173526564-173526564
CTexonicMaternalstopgainNM_178527c.G1130Ap.W377X38.0-Ruzzo2019 G
SLC9C2     iHART2409chr1:
173526564-173526564
CTexonicMaternalstopgainNM_178527c.G1130Ap.W377X38.0-Ruzzo2019 G
SLC9C2     2-1180-003chr1:
173484376-173484376
TCintronicDe novo--Yuen2017 G
SLC9C2     Lim2017:70327chr1:
173490530-173490530
GAexonicDe novosynonymous SNVNM_178527c.C2649Tp.A883A--Lim2017 E
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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