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Results for "ADAP1"

Variant Events: 12

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
ADAP1     2-0704-003chr7:
945138-945138
GAintronicDe novo--Yuen2017 G
ADAP1     SF0109099.p1chr7:
944776-944776
CTexonicDe novononsynonymous SNVNM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869
c.G137A
c.G206A
c.G455A
c.G206A
c.G422A
p.R46Q
p.R69Q
p.R152Q
p.R69Q
p.R141Q
26.7-Wang2020 T
ADAP1     2-1475-003chr7:
972017-972017
GAintronicDe novo--Yuen2017 G
ADAP1     1-0162-004chr7:
941955-941955
TCintronicDe novo--Yuen2017 G
ADAP1     7-0095-004chr7:
941955-941955
TCintronicDe novo--Yuen2017 G
ADAP1     14526.p1chr7:
944768-944768
CTexonicDe novononsynonymous SNVNM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869
c.G145A
c.G214A
c.G463A
c.G214A
c.G430A
p.G49R
p.G72R
p.G155R
p.G72R
p.G144R
24.68.367E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
ADAP1     AU4476302chr7:
966500-966500
GAintronicDe novo--Yuen2017 G
ADAP1     12795.p1chr7:
974092-974092
CTintronicDe novo--Turner2016 G
ADAP1     1-0353-003chr7:
970443-970443
AACTintronicDe novo--Yuen2017 G
ADAP1     1-0534-004chr7:
970609-970609
GCintronicDe novo--Yuen2017 G
ADAP1     1-0336-004chr7:
970443-970443
AACTintronicDe novo--Yuen2017 G
ADAP1     ASDchr7:
943910-943910
CAsplicingUnknownsplicing8.4-Wang2020 T
Wang2020 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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