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Results for "ENG"

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
ENG     JASD_Fam0125chr9:
130578257-130578257
AGexonicDe novononsynonymous SNVNM_000118
NM_001114753
NM_001278138
c.T1817C
c.T1817C
c.T1271C
p.L606P
p.L606P
p.L424P
21.0-Takata2018 E
ENG     AU066206chr9:
130585122-130585138
TTTTGTTTGTTTGTTTGTTTTGTTTGTTTGintronicDe novo--Yuen2017 G
ENG     NDAR_INVUH366DLU_wes1chr9:
130587303-130587303
CGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ENG     2-0063-003chr9:
130586758-130586769
GTCACTGTGTGAGintronicDe novo-0.004Yuen2017 G
ENG     2-0063-005chr9:
130586758-130586769
GTCACTGTGTGAGintronicDe novo-0.004Yuen2017 G
ENG     SSC08374chr9:
130580991-130580991
GCintronicDe novo--Lim2017 E
ENG     13730.p1chr9:
130580991-130580991
GCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 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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