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Results for "ARVCF"

Variant Events: 19

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
ARVCF     PN400514chr22:
19965563-19965563
CTexonicUnknownnonsynonymous SNVNM_001670c.G1616Ap.R539Q30.00.0074Leblond2019 E
ARVCF     215-13180-1973chr22:
19966460-19966460
CTexonicUnknownnonsynonymous SNVNM_001670c.G1540Ap.E514K29.93.333E-5Stessman2017 T
ARVCF     PN400280chr22:
19965563-19965563
CTexonicUnknownnonsynonymous SNVNM_001670c.G1616Ap.R539Q30.00.0074Leblond2019 E
ARVCF     A8chr22:
20000283-20000283
CTintronicDe novo--Wu2018 G
ARVCF     PN400150chr22:
19969182-19969182
CTexonicUnknownnonsynonymous SNVNM_001670c.G448Ap.D150N35.00.0027Leblond2019 E
ARVCF     M23104chr22:
19966546-19966546
CTexonicMaternalnonsynonymous SNVNM_001670c.G1454Ap.G485D30.0-Guo2018 T
ARVCF     98HI0024Bchr22:
19969489-19969489
GAexonicDe novosynonymous SNVNM_001670c.C336Tp.S112S-5.024E-5Satterstrom2020 E
ARVCF     Lim2017:36162chr22:
19965564-19965564
GAexonicDe novostopgainNM_001670c.C1615Tp.R539X42.08.485E-6Lim2017 E
ARVCF     PN400149chr22:
19969182-19969182
CTexonicUnknownnonsynonymous SNVNM_001670c.G448Ap.D150N35.00.0027Leblond2019 E
ARVCF     214-17053-1chr22:
19967320-19967321
GGGexonicInheritedframeshift deletionNM_001670c.1341delCp.A447fs--Stessman2017 T
ARVCF     14405.p1chr22:
19965564-19965564
GAexonicDe novostopgainNM_001670c.C1615Tp.R539X42.08.485E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ARVCF     PN400111chr22:
19965563-19965563
CTexonicUnknownnonsynonymous SNVNM_001670c.G1616Ap.R539Q30.00.0074Leblond2019 E
ARVCF     iHART3201chr22:
19969261-19969261
CTsplicingPaternalsplicing14.76-Ruzzo2019 G
ARVCF     AU1687302chr22:
19993879-19993882
TCACTCintronicDe novo--Yuen2017 G
ARVCF     M30985chr22:
19958795-19958795
CTexonicPaternalnonsynonymous SNVNM_001670c.G2845Ap.A949T32.02.0E-4Guo2018 T
ARVCF     210-18179-301chr22:
19965576-19965576
CTexonicMaternalnonsynonymous SNVNM_001670c.G1603Ap.E535K30.08.535E-6Stessman2017 T
ARVCF     220-9738-201chr22:
19961211-19961211
CTexonicUnknownnonsynonymous SNVNM_001670c.G2194Ap.A732T25.1-Stessman2017 T
ARVCF     74-0358 Complex Event; expand row to view variants  Inheritednonsynonymous SNVNM_001670
NM_001670
c.G2792T
c.C2793G
p.S931I
p.S931R
12.29-Patowary2019 E
Patowary2019 E
ARVCF     200675515@1082034250chr22:
19966614-19966614
CTintronicDe novo-2.0E-4Satterstrom2020 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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