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Results for "ITGB6"

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
ITGB6     A7chr2:
160982927-160982927
GAexonicDe novostopgainNM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282389
NM_001282353
c.C1561T
c.C1720T
c.C1432T
c.C1846T
c.C1627T
c.C1846T
p.R521X
p.R574X
p.R478X
p.R616X
p.R543X
p.R616X
40.01.648E-5Wu2018 G
ITGB6     1-0380-003chr2:
161012174-161012174
TCintronicDe novo--Yuen2017 G
ITGB6     152-HSC0079chr2:
160964212-160964212
CTexonicInheritednonsynonymous SNVNM_001282354
NM_001282355
NM_001282388
NM_001282390
NM_000888
NM_001282389
NM_001282353
c.G1961A
c.G1925A
c.G2120A
c.G1832A
c.G2246A
c.G2027A
c.G2246A
p.R654Q
p.R642Q
p.R707Q
p.R611Q
p.R749Q
p.R676Q
p.R749Q
25.59.065E-5Patowary2019 E
ITGB6     A3chr2:
161025722-161025722
CGsplicingDe novosplicing27.0-Wu2018 G
ITGB6     AU3862305chr2:
161100967-161100967
ATintergenicDe novo--Yuen2017 G
ITGB6     SP0000087chr2:
160994350-160994350
CTexonicDe novononsynonymous SNVNM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282355
NM_001282389
NM_001282353
c.G970A
c.G1129A
c.G841A
c.G1255A
c.G1255A
c.G1036A
c.G1255A
p.V324M
p.V377M
p.V281M
p.V419M
p.V419M
p.V346M
p.V419M
14.272.5E-5Feliciano2019 E
ITGB6     7902-01-001chr2:
160994090-160994090
GAexonicDe novosynonymous SNVNM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282355
NM_001282389
NM_001282353
c.C1230T
c.C1389T
c.C1101T
c.C1515T
c.C1515T
c.C1296T
c.C1515T
p.A410A
p.A463A
p.A367A
p.A505A
p.A505A
p.A432A
p.A505A
--Satterstrom2020 E
ITGB6     AU059903chr2:
161110980-161110987
CAAGGAAGCAAGintergenicDe novo--Yuen2017 G
ITGB6     2-1440-003chr2:
161078207-161078207
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ITGB6     AU3724302chr2:
161017156-161017156
GTintronicDe novo--Yuen2017 G
ITGB6     1-0125-003chr2:
161009137-161009137
GCintronicDe novo--Yuen2017 G
ITGB6     5-0018-003chr2:
161062572-161062572
GCintergenicDe 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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