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Results for "POMGNT1"

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
POMGNT1     Li2017:19711chr1:
46655238-46655238
CAexonicUnknownnonsynonymous SNVNM_001290129
NM_001290130
NM_001243766
NM_017739
c.G1721T
c.G1358T
c.G1787T
c.G1787T
p.C574F
p.C453F
p.C596F
p.C596F
23.5-Li2017 T
POMGNT1     Li2017:16232chr1:
46655223-46655224
TCTexonicUnknownframeshift deletionNM_001290129
NM_001290130
NM_001243766
NM_017739
c.1735delG
c.1372delG
c.1801delG
c.1801delG
p.D579fs
p.D458fs
p.D601fs
p.D601fs
--Li2017 T
POMGNT1     AU-13300chr1:
46658987-46658987
CTexonicInheritednonsynonymous SNVNM_001290129
NM_001290130
NM_001243766
NM_017739
c.G1034A
c.G671A
c.G1100A
c.G1100A
p.R345H
p.R224H
p.R367H
p.R367H
28.88.675E-6Yu2013 E
POMGNT1     iHART1146chr1:
46660525-46660525
GAexonicPaternalstopgainNM_001290129
NM_001290130
NM_001243766
NM_017739
c.C577T
c.C214T
c.C643T
c.C643T
p.R193X
p.R72X
p.R215X
p.R215X
43.02.488E-5Ruzzo2019 G
POMGNT1     Li2017:15021chr1:
46661488-46661488
CCAexonicUnknownframeshift insertionNM_001290129
NM_001290130
NM_001243766
NM_017739
c.462dupT
c.99dupT
c.528dupT
c.528dupT
p.V155fs
p.V34fs
p.V177fs
p.V177fs
--Li2017 T
POMGNT1     09C81476chr1:
46658806-46658806
CTintronicDe novo-5.021E-5Kosmicki2017 E
Satterstrom2020 E
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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