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Results for "MOV10"

Variant Events: 16

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     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
Zhou2022 GE
MOV10     Marques2022:10chr1:
113232525-113232525		TCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.T641C
c.T641C
c.T473C		p.V214A
p.V214A
p.V158A		25.8-Marques2022 ET
MOV10     Marques2022:9chr1:
113232272-113232272		GCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G577C
c.G577C
c.G409C		p.G193R
p.G193R
p.G137R		18.05-Marques2022 ET
MOV10     SSC04349chr1:
113241092-113241093		CGCexonicDe novoframeshift deletionNM_001130079
NM_020963
NM_001286072		c.2501delG
c.2501delG
c.2333delG		p.R834fs
p.R834fs
p.R778fs		--Fu2022 E
Trost2022 G
MOV10     Marques2022:11chr1:
113240930-113240930		GAexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G2338A
c.G2338A
c.G2170A		p.G780S
p.G780S
p.G724S		29.4-Marques2022 ET
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     SP0055701chr1:
113232014-113232022		CCCTTGACTCintronicDe novo--Fu2022 E
MOV10     219-2315-0001chr1:
113237252-113237252		GAsplicingPaternalsplicing22.2-Stessman2017 T
MOV10     2-1272-003Achr1:
113235478-113235478		GAexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G1067A
c.G1067A
c.G899A		p.R356Q
p.R356Q
p.R300Q		29.3-Zhou2022 GE
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     5-0512-003chr1:
113234892-113234892		CTintronicDe novo--Trost2022 G
MOV10     3-0339-000chr1:
113224347-113224347		CGintronicDe novo--Trost2022 G
MOV10     M08563 Complex Event; expand row to view variants  Maternalframeshift insertion, stoplossNM_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     SP0031271chr1:
113242473-113242473		CTintronicDe novo-6.0E-4Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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