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Results for "MFSD14B"

Variant Events: 10

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
MFSD14B     3-0065-000chr9:
97183842-97183842
TCintronicDe novo--Yuen2017 G
MFSD14B     AU4327303chr9:
97218106-97218106
CGintronicDe novo--Yuen2017 G
MFSD14B     AU4327303chr9:
97220545-97220545
TCintronicDe novo--Yuen2017 G
MFSD14B     1-0051-004chr9:
97283445-97283445
TCintergenicDe novo--Yuen2017 G
MFSD14B     2-1522-003chr9:
97159258-97159258
GAintronicDe novo--Yuen2017 G
MFSD14B     AU073005chr9:
97218606-97218606
GCexonicDe novononsynonymous SNVNM_032558c.G1113Cp.E371D4.418-Yuen2017 G
MFSD14B     AU3692302chr9:
97187613-97187613
GAintronicDe novo--Yuen2017 G
MFSD14B     08C77807chr9:
97213711-97213713
TAATintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
MFSD14B     SJD_10chr9:
97207468-97207469
AAAintronicMaternal--Toma2013 E
MFSD14B     AU4476302chr9:
97250257-97250257
CTintergenicDe 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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