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Results for "SLC25A39"

Variant Events: 3

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
SLC25A39     Li2017:20258chr17:
42398444-42398444
GAexonicUnknownstopgainNM_001143780
NM_016016
c.C673T
c.C649T
p.R225X
p.R217X
36.02.915E-5Li2017 T
SLC25A39     12939.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_001143780
NM_016016
NM_001143780
NM_016016
c.335_336del
c.311_312del
c.334_335del
c.310_311del
p.V112fs
p.V104fs
p.V112fs
p.V104fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
SLC25A39     1360011chr17:
42400806-42400807
CACintronicDe novo--Satterstrom2020 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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