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Results for "ITGA8"

Variant Events: 15

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
ITGA8     AU1848302chr10:
15635413-15635413
CGintronicDe novo--Yuen2017 G
ITGA8     Lim2017:68751chr10:
15634273-15634273
GAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.C2197T
c.C2242T
p.R733C
p.R748C
24.21.0E-4Lim2017 E
ITGA8     AU3900302chr10:
15708953-15708953
ATintronicDe novo--Yuen2017 G
ITGA8     2-0285-004chr10:
15810337-15810337
AGintergenicDe novo--Yuen2017 G
ITGA8     13306.p1chr10:
15634273-15634273
GAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.C2197T
c.C2242T
p.R733C
p.R748C
24.21.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ITGA8     14086.p1chr10:
15649722-15649722
TAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.A1673T
c.A1718T
p.K558I
p.K573I
11.28-Ji2016 E
ITGA8     1-0067-004chr10:
15721693-15721693
GCintronicDe novo--Yuen2017 G
ITGA8     AU3787302chr10:
15803369-15803369
GCintergenicDe novo--Yuen2017 G
ITGA8     1-0079-008chr10:
15675683-15675683
TGintronicDe novo--Yuen2017 G
ITGA8     AU4173301chr10:
15733288-15733288
CGintronicDe novo--Yuen2017 G
ITGA8     512-04-101865chr10:
15600168-15600168
TAexonicDe novononsynonymous SNVNM_001291494
NM_003638
c.A2626T
c.A2671T
p.S876C
p.S891C
18.38-Satterstrom2020 E
ITGA8     1-0049-004chr10:
15754987-15754987
TCintronicDe novo--Yuen2017 G
ITGA8     1-0473-003chr10:
15779527-15779527
AGintergenicDe novo--Yuen2017 G
ITGA8     1-0068-003chr10:
15714612-15714612
AGintronicDe novo-7.0E-4Yuen2017 G
ITGA8     AU2381302chr10:
15684844-15684844
TCintronicDe novo--Yuen2017 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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