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Results for "ITGA7"

Variant Events: 9

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
ITGA7     SSC07139chr12:
56079045-56079045
GAexonicDe novononsynonymous SNVNM_001144996
NM_001144997
NM_002206
c.C3223T
c.C2932T
c.C3211T
p.P1075S
p.P978S
p.P1071S
13.56-Lim2017 E
ITGA7     iHART2303chr12:
56078988-56078988
GAexonicPaternalstopgainNM_001144996
NM_001144997
NM_002206
c.C3280T
c.C2989T
c.C3268T
p.Q1094X
p.Q997X
p.Q1090X
41.03.0E-4Ruzzo2019 G
ITGA7     AU3858302chr12:
56090739-56090739
CTexonicDe novononsynonymous SNVNM_001144996
NM_001144997
NM_002206
c.G1693A
c.G1402A
c.G1681A
p.V565M
p.V468M
p.V561M
23.33.0E-4Yuen2017 G
ITGA7     iHART3160chr12:
56088226-56088226
CTsplicingPaternalsplicing23.01.648E-5Ruzzo2019 G
ITGA7     13216.p1chr12:
56079045-56079045
GAexonicDe novononsynonymous SNVNM_001144996
NM_001144997
NM_002206
c.C3223T
c.C2932T
c.C3211T
p.P1075S
p.P978S
p.P1071S
13.56-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ITGA7     NDAR_INVPW048JAT_wes1chr12:
56089299-56089299
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ITGA7     11671.p1chr12:
56093611-56093611
CTintronicDe novo--Satterstrom2020 E
ITGA7     AU4235303chr12:
56096122-56096122
GAintronicDe novo--Yuen2017 G
ITGA7     1-0233-004chr12:
56103753-56103753
CAintronicDe 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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