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Results for "ADGRB2"

Variant Events: 13

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
ADGRB2     PN400495chr1:
32201439-32201439
CTexonicUnknownnonsynonymous SNVNM_001294335
NM_001294336
c.G3256A
c.G3256A
p.V1086I
p.V1086I
20.50.0025Leblond2019 E
ADGRB2     AU1955302chr1:
32224344-32224344
TAintronicDe novo--Yuen2017 G
ADGRB2     2-1430-003chr1:
32194693-32194693
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ADGRB2     12646.p1chr1:
32198069-32198069
TTGintronicDe novo-8.634E-6Satterstrom2020 E
ADGRB2     1-0559-005chr1:
32227223-32227223
GAintronicDe novo--Yuen2017 G
ADGRB2     12529.p1chr1:
32209765-32209765
AGintronicMosaic Mat.-0.0013Dou2017 E
ADGRB2     13043.p1chr1:
32221861-32221861
AAGTTexonicDe novononframeshift insertionNM_001294335
NM_001294336
c.576_577insAAC
c.576_577insAAC
p.S193delinsNS
p.S193delinsNS
--Satterstrom2020 E
ADGRB2     PN400488chr1:
32201439-32201439
CTexonicUnknownnonsynonymous SNVNM_001294335
NM_001294336
c.G3256A
c.G3256A
p.V1086I
p.V1086I
20.50.0025Leblond2019 E
ADGRB2     13390.p1chr1:
32207262-32207262
GAexonicDe novosynonymous SNVNM_001294335
NM_001294336
c.C1650T
c.C1650T
p.G550G
p.G550G
-5.782E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADGRB2     1-0590-003chr1:
32252623-32252623
TCintergenicDe novo--Yuen2017 G
ADGRB2     74-0707chr1:
32196666-32196666
TAexonicInheritednonsynonymous SNVNM_001294336
NM_001294335
c.A4016T
c.A4115T
p.D1339V
p.D1372V
12.11-Patowary2019 E
ADGRB2     SP0019703chr1:
32198613-32198613
CAexonicMosaicnonsynonymous SNVNM_001294336
NM_001294335
c.G3485T
c.G3584T
p.G1162V
p.G1195V
27.5-Feliciano2019 E
ADGRB2     PN400171chr1:
32201439-32201439
CTexonicUnknownnonsynonymous SNVNM_001294335
NM_001294336
c.G3256A
c.G3256A
p.V1086I
p.V1086I
20.50.0025Leblond2019 E
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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