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Results for "TMEM41A"

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
TMEM41A     1-0054-003chr3:
185210628-185210628
AGintronicDe novo--Yuen2017 G
TMEM41A     12573.p1chr3:
185209431-185209431
AGexonicDe novononsynonymous SNVNM_080652c.T689Cp.M230T15.01-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TMEM41A     1-0551-003chr3:
185219685-185219685
TCintergenicDe novo--Yuen2017 G
TMEM41A     12723.p1chr3:
185214490-185214490
GCintronicDe novo--Satterstrom2020 E
TMEM41A     iHART3007chr3:
185214768-185214769
ACAexonicPaternalframeshift deletionNM_080652c.120delGp.R40fs-3.879E-5Ruzzo2019 G
TMEM41A     iHART3005chr3:
185214768-185214769
ACAexonicPaternalframeshift deletionNM_080652c.120delGp.R40fs-3.879E-5Ruzzo2019 G
TMEM41A     SSC05945chr3:
185209431-185209431
AGexonicDe novononsynonymous SNVNM_080652c.T689Cp.M230T15.01-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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