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Results for "PIGV"

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
PIGV     Hu2022:41chr1:
27121133-27121133
GTexonicUnknownnonsynonymous SNVNM_001202554
NM_017837
c.G608T
c.G608T
p.R203L
p.R203L
25.7-Hu2022 T
PIGV     mAGRE5973chr1:
27124258-27124258
CTexonicMaternalstopgainNM_001202554
NM_017837
c.C1405T
c.C1405T
p.R469X
p.R469X
36.05.766E-5Cirnigliaro2023 G
PIGV     Hu2022:41chr1:
27121024-27121024
GAexonicUnknownnonsynonymous SNVNM_001202554
NM_017837
c.G499A
c.G499A
p.G167S
p.G167S
14.184.942E-5Hu2022 T
PIGV     2-0022-003chr1:
27131056-27131056
AGintergenicDe novo--Yuen2017 G
PIGV     2J788chr1:
27120945-27120945
GAexonicDe novosynonymous SNVNM_001202554
NM_017837
c.G420A
c.G420A
p.L140L
p.L140L
--Fu2022 E
PIGV     1-1005-005Achr1:
27124828-27124828
AGUTR3De novo--Trost2022 G
PIGV     SP0241744chr1:
27120992-27120992
GTexonicDe novononsynonymous SNVNM_001202554
NM_017837
c.G467T
c.G467T
p.C156F
p.C156F
17.06-Trost2022 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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