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Results for "MFSD12"

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
MFSD12     AU073003chr19:
3557387-3557387
GAexonicDe novosynonymous SNVNM_001287529
NM_174983
c.C15T
c.C15T
p.P5P
p.P5P
--Yuen2017 G
MFSD12     DEASD_0046_001chr19:
3547469-3547469
GAexonicDe novononsynonymous SNVNM_001287529
NM_174983
c.C887T
c.C914T
p.S296L
p.S305L
27.27.794E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MFSD12     1-0447-003chr19:
3559028-3559045
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTintergenicDe novo--Yuen2017 G
MFSD12     12739.p1chr19:
3546431-3546431
GAintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MFSD12     AU024104chr19:
3556055-3556062
CAGATAGACAGAintronicDe novo--Yuen2017 G
MFSD12     iHART3050chr19:
3551139-3551140
AGAexonicMaternalframeshift deletionNM_001287529
NM_174983
c.324delC
c.351delC
p.G108fs
p.G117fs
-3.603E-5Ruzzo2019 G
MFSD12     iHART3051chr19:
3551139-3551140
AGAexonicMaternalframeshift deletionNM_001287529
NM_174983
c.324delC
c.351delC
p.G108fs
p.G117fs
-3.603E-5Ruzzo2019 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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