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Results for "POMT1"

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
POMT1     Li2017:23717chr9:
134398429-134398429
CTexonicUnknownnonsynonymous SNVNM_001136114
NM_001077366
NM_001077365
NM_001136113
NM_007171
c.C1763T
c.C1952T
c.C2114T
c.C2114T
c.C2180T
p.S588L
p.S651L
p.S705L
p.S705L
p.S727L
15.252.655E-5Li2017 T
POMT1     Li2017:30chr9:
134386855-134386855
GAsplicingUnknownsplicing19.42-Li2017 T
POMT1     Li2017:16286chr9:
134381575-134381575
CTexonicUnknownnonsynonymous SNVNM_001077366
NM_001077365
NM_001136113
NM_007171
c.C35T
c.C197T
c.C197T
c.C197T
p.P12L
p.P66L
p.P66L
p.P66L
29.23.295E-5Li2017 T
POMT1     Li2017:20402chr9:
134396829-134396829
CTexonicDe novononsynonymous SNVNM_001136114
NM_001077366
NM_001077365
NM_001136113
NM_007171
c.C1444T
c.C1633T
c.C1795T
c.C1795T
c.C1861T
p.R482W
p.R545W
p.R599W
p.R599W
p.R621W
17.518.243E-6Li2017 T
POMT1     1-0323-003chr9:
134378226-134378226
GAupstreamDe novo--Yuen2017 G
POMT1     08C74645chr9:
134395439-134395439
ACintronicDe novo--Satterstrom2020 E
POMT1     Li2017:19664chr9:
134386814-134386814
CTexonicUnknownnonsynonymous SNVNM_001136114
NM_001077366
NM_001077365
NM_001136113
NM_007171
c.C595T
c.C784T
c.C946T
c.C946T
c.C1012T
p.P199S
p.P262S
p.P316S
p.P316S
p.P338S
22.1-Li2017 T
POMT1     13535.p1chr9:
134381774-134381774
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
POMT1     1-0447-003chr9:
134380248-134380248
CTintronicDe 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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