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Results for "ITGA10"

Variant Events: 6

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
ITGA10     13454.p1chr1:
145532078-145532078
AGintronicDe novo-1.0E-4Satterstrom2020 E
ITGA10     10C110016chr1:
145533982-145533982
GCintronicDe novo-1.0E-4Kosmicki2017 E
Satterstrom2020 E
ITGA10     iHART2259chr1:
145532475-145532476
CGCexonicPaternalframeshift deletionNM_001303041
NM_001303040
NM_003637
c.500delG
c.536delG
c.929delG
p.R167fs
p.R179fs
p.R310fs
--Ruzzo2019 G
ITGA10     P1229chr1:
145536118-145536118
AGexonicDe novononsynonymous SNVNM_001303041
NM_001303040
NM_003637
c.A1781G
c.A1817G
c.A2210G
p.E594G
p.E606G
p.E737G
13.51-Hashimoto2016 E
ITGA10     Chen2017:127chr1:
145534964-145534964
GAexonicDe novononsynonymous SNVNM_001303041
NM_001303040
NM_003637
c.G1438A
c.G1474A
c.G1867A
p.G480R
p.G492R
p.G623R
27.5-Chen2017 E
ITGA10     200675765@1082034184chr1:
145534964-145534964
GAexonicDe novononsynonymous SNVNM_001303041
NM_001303040
NM_003637
c.G1438A
c.G1474A
c.G1867A
p.G480R
p.G492R
p.G623R
27.5-Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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
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