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Results for "PIH1D3"

Variant Events: 9

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
PIH1D3     1-0674-003chrX:
106543842-106543842
CTintergenicDe novo--Yuen2017 G
PIH1D3     AU1848302chrX:
106548321-106548321
AGintergenicDe novo--Yuen2017 G
PIH1D3     AU3610302chrX:
106687851-106687856
CTCTGTCTintergenicDe novo--Yuen2017 G
PIH1D3     AU3768302chrX:
106630706-106630706
AGintergenicDe novo--Yuen2017 G
PIH1D3     1-0777-003chrX:
106532615-106532615
GAintergenicDe novo--Yuen2017 G
PIH1D3     11135.p1chrX:
106595169-106595169
CAintergenicMosaic--Dou2017 E
PIH1D3     1-0173-004chrX:
106548813-106548813
TAintergenicDe novo--Yuen2017 G
PIH1D3     AU1955302chrX:
106693829-106693834
CACAGACAintergenicDe novo--Yuen2017 G
PIH1D3     AU4028302chrX:
106687851-106687856
CTCTGTCTintergenicDe 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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