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Results for "SLC9A3"

Variant Events: 8

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
SLC9A3     AU4310301chr5:
484203-484203
AGintronicDe novo--Yuen2017 G
SLC9A3     AU4310301chr5:
484207-484207
CTintronicDe novo--Yuen2017 G
SLC9A3     AU1933302chr5:
512714-512714
TGintronicDe novo--Yuen2017 G
SLC9A3     13221.p1chr5:
479989-479989
CTexonicDe novononsynonymous SNVNM_001284351
NM_004174
c.G1582A
c.G1609A
p.E528K
p.E537K
13.178.265E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SLC9A3     11368.p1chr5:
475122-475123
AGAexonicDe novoframeshift deletionNM_001284351
NM_004174
c.2349delC
c.2376delC
p.P783fs
p.P792fs
--Ji2016 E
Krumm2015 E
SLC9A3     AU003405chr5:
518857-518857
GAintronicDe novo--Yuen2017 G
SLC9A3     13023.p1chr5:
528802-528802
GCintergenicDe novo--Turner2016 G
SLC9A3     AU3849303chr5:
497623-497623
CTintronicDe 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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