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Results for "MFSD2A"

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
MFSD2A     AU060703chr1:
40503509-40503509
CTintergenicDe novo--Yuen2017 G
MFSD2A     1-0092-003chr1:
40430374-40430374
GAintronicDe novo--Yuen2017 G
MFSD2A     AU074403chr1:
40434742-40434742
CGintronicDe novo--Trost2022 G
Yuen2017 G
MFSD2A     SMHC00815s000chr1:
40432757-40432757
GCsplicingDe novosplicing19.85-Yuan2023 E
MFSD2A     Wang2023:815chr1:
40432757-40432757
GCsplicingDe novosplicing19.85-Wang2023 E
MFSD2A     SP0071594chr1:
40432489-40432489
AGexonicDe novononsynonymous SNVNM_001287808
NM_001136493
NM_001287809
NM_032793
c.A344G
c.A851G
c.A695G
c.A812G
p.Y115C
p.Y284C
p.Y232C
p.Y271C
7.985-Fu2022 E
Trost2022 G
Zhou2022 GE
MFSD2A     AU4264302chr1:
40479888-40479891
ATTTATintergenicDe 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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