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Results for "GPC3"

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
GPC3     1-0507-003chrX:
133192237-133192237
GAintergenicDe novo--Yuen2017 G
GPC3     1-0484-003chrX:
133199767-133199767
GCintergenicDe novo--Yuen2017 G
GPC3     Mahjani2021:79chrX:
133087190-133087190
CAexonicnonsynonymous SNVNM_001164617
NM_001164618
NM_004484
c.G224T
c.G224T
c.G224T
p.R75I
p.R75I
p.R75I
23.5-Mahjani2021 E
GPC3     AU050704chrX:
132795619-132795663
TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCintronicDe novo--Yuen2017 G
GPC3     1-0570-003chrX:
132936992-132936992
TCintronicDe novo--Yuen2017 G
GPC3     2-1230-003chrX:
132860550-132860550
TCintronicDe novo--Yuen2017 G
GPC3     AU3903301chrX:
132725833-132725833
TCintronicDe 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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