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Results for "MOV10"

Variant Events: 7

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
MOV10     12473.p1chr1:
113241092-113241093
CGCexonicDe novoframeshift deletionNM_001130079
NM_020963
NM_001286072
c.2501delG
c.2501delG
c.2333delG
p.R834fs
p.R834fs
p.R778fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
MOV10     2-1272-003chr1:
113235478-113235478
GAexonicDe novononsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.G1067A
c.G1067A
c.G899A
p.R356Q
p.R356Q
p.R300Q
29.3-Jiang2013 G
Yuen2016 G
MOV10     M21013chr1:
113241093-113241093
GAexonicMaternalnonsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.G2501A
c.G2501A
c.G2333A
p.R834Q
p.R834Q
p.R778Q
36.08.362E-6Guo2018 T
Wang2016 T
MOV10     M08563 Complex Event; expand row to view variants  Maternalstoploss, frameshift insertionNM_001130079
NM_020963
NM_001286072
NM_001130079
NM_020963
NM_001286072
c.3011_3012insAAGA
c.3011_3012insAAGA
c.2843_2844insAAGA
c.G3011T
c.G3011T
c.G2843T
p.X1004delinsX
p.X1004delinsX
p.X948delinsX
p.X1004L
p.X1004L
p.X948L
17.22-Guo2018 T
Wang2016 T
MOV10     219-2315-0001chr1:
113237252-113237252
GAsplicingPaternalsplicing22.2-Stessman2017 T
MOV10     09C99824chr1:
113235478-113235478
GAexonicDe novononsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.G1067A
c.G1067A
c.G899A
p.R356Q
p.R356Q
p.R300Q
29.3-Satterstrom2020 E
MOV10     H7E6Mchr1:
113238813-113238814
CCAAexonicUnknownnonframeshift substitutionNM_001130079
NM_020963
NM_001286072
c.1823_1824AA
c.1823_1824AA
c.1655_1656AA
N/A
N/A
N/A
--Stessman2017 T
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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