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Results for "ADAP1"

Variant Events: 41

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     2-1475-003chr7:
972017-972017
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAP1     14526.p1chr7:
944768-944768
CTexonicDe novo, Unknownnonsynonymous 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
Zhou2022 GE
ADAP1     1-0534-004chr7:
970609-970609
GCintronicDe novo--Yuen2017 G
ADAP1     Wang2023:728chr7:
938895-938895
CTexonicDe novononsynonymous SNVNM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869
c.G586A
c.G655A
c.G904A
c.G655A
c.G871A
p.A196T
p.A219T
p.A302T
p.A219T
p.A291T
19.1-Wang2023 E
ADAP1     SF0109099.p1chr7:
944776-944776
CTexonicnonsynonymous 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     2-0704-003chr7:
945138-945138
GAintronicDe novo--Yuen2017 G
ADAP1     SP0109099chr7:
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-Fu2022 E
Trost2022 G
Zhou2022 GE
ADAP1     7-0095-004chr7:
941955-941955
TCintronicDe novo--Trost2022 G
Yuen2017 G
ADAP1     AU4476302chr7:
966500-966500
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAP1     1-0336-004chr7:
970443-970443
AACTintronicDe novo--Yuen2017 G
ADAP1     1-0901-003chr7:
941966-941967
ATGCintronicDe novo--Trost2022 G
ADAP1     2-0214-004chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     1-0473-003chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     Melbourne2_ASD_1698chr7:
943910-943910
CAsplicingUnknownsplicing8.4-Wang2020 T
ADAP1     2-0215-003chr7:
941972-941972
GAintronicDe novo--Trost2022 G
ADAP1     1-0901-003chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     1-0473-003chr7:
941972-941972
GAintronicDe novo--Trost2022 G
ADAP1     7-0191-003chr7:
941972-941972
GAintronicDe novo--Trost2022 G
ADAP1     7-0191-003chr7:
941966-941967
ATGCintronicDe novo--Trost2022 G
ADAP1     1-0901-003chr7:
941972-941972
GAintronicDe novo--Trost2022 G
ADAP1     1-0649-003chr7:
943946-943946
CTintronicDe novo-8.233E-5Trost2022 G
ADAP1     1024chr7:
945236-945236
AGintronicDe novo--Trost2022 G
ADAP1     1-0162-004chr7:
941955-941955
TCintronicDe novo--Yuen2017 G
ADAP1     2-0135-003chr7:
942019-942021
AGGCAintronicDe novo--Trost2022 G
ADAP1     1-1038-003chr7:
942043-942043
CTintronicDe novo--Trost2022 G
ADAP1     2-1275-003chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     5-0134-003chr7:
942019-942021
AGGCAintronicDe novo--Trost2022 G
ADAP1     7-0191-003chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     2-0215-003chr7:
941975-941977
ATCGTTintronicDe novo--Trost2022 G
ADAP1     12795.p1chr7:
974092-974092
CTintronicDe novo--Turner2016 G
ADAP1     1-0565-003chr7:
970377-970379
TGTCCCintronicDe novo--Trost2022 G
ADAP1     1-0353-003chr7:
970443-970443
AACTintronicDe novo--Yuen2017 G
ADAP1     2-1456-004chr7:
970602-970603
TCCAintronicDe novo--Trost2022 G
ADAP1     GEA423chr7:
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-Fu2022 E
ADAP1     1-0952-003chr7:
970377-970379
TGTCCCintronicDe novo--Trost2022 G
ADAP1     36790chr7:
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-6Fu2022 E
Trost2022 G
ADAP1     1-0158-003chr7:
970377-970379
TGTCCCintronicDe novo--Trost2022 G
ADAP1     1-0045-004chr7:
970377-970379
TGTCCCintronicDe novo--Trost2022 G
ADAP1     2-0132-004chr7:
970377-970379
TGTCCCintronicDe novo--Trost2022 G
ADAP1     1-1109-003chr7:
947221-947221
GAintronicDe novo--Trost2022 G
ADAP1     5-5123-003chr7:
970107-970107
TAintronicDe novo--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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