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Results for "FA2H"

Variant Events: 11

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
FA2H     2-0303-003chr16:
74760150-74760150
CTexonicDe novononsynonymous SNVNM_024306c.G586Ap.V196I7.8321.668E-5Yuen2015 G
FA2H     5-0146-003chr16:
74747924-74747924
GAUTR3De novo--Yuen2017 G
FA2H     AU2035301chr16:
74757584-74757584
AGintronicDe novo--Yuen2017 G
FA2H     2-1416-003chr16:
74746259-74746259
GTdownstreamDe novo--Yuen2017 G
FA2H     AU3645301chr16:
74836894-74836894
GAintergenicDe novo--Yuen2017 G
FA2H     5-0131-003chr16:
74810291-74810291
GAintergenicDe novo--Yuen2017 G
FA2H     2-1416-004chr16:
74746259-74746259
GTdownstreamDe novo--Yuen2017 G
FA2H     3-0434-000chr16:
74754454-74754454
CGintronicDe novo--Yuen2016 G
Yuen2017 G
FA2H     2-1291-003chr16:
74774665-74774665
CTintronicDe novo--Yuen2016 G
FA2H     AU2035302chr16:
74757584-74757584
AGintronicDe novo--Yuen2017 G
FA2H     2-1166-003chr16:
74751239-74751239
GAintronicDe novo--Yuen2016 G
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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