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Results for "GGA2"

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
GGA2     11122.p1chr16:
23479019-23479019
TCexonicMosaic, De novosynonymous SNVNM_015044c.A1734Gp.E578E--Dou2017 E
Krumm2015 E
GGA2     A5chr16:
23478461-23478461
GCUTR3De novo--Wu2018 G
GGA2     2-1567-003chr16:
23523063-23523063
TTAATTATGAAATGintergenicDe novo--Yuen2017 G
GGA2     1232012chr16:
23491927-23491927
CAintronicDe novo-1.697E-5Satterstrom2020 E
GGA2     A12011-1chr16:
23478964-23478964
CTexonicUnknownnonsynonymous SNVNM_015044c.G1789Ap.E597K36.08.635E-6Li2017 T
GGA2     2-0244-003chr16:
23502909-23502909
CTintronicDe novo--Yuen2017 G
GGA2     Li2017:19717chr16:
23479011-23479011
CTexonicUnknownnonsynonymous SNVNM_015044c.G1742Ap.R581H33.01.0E-4Li2017 T
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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