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Results for "RNF43"

Variant Events: 10

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
RNF43     3-0360-000chr17:
56463310-56463310
ATintronicDe novo--Trost2022 G
RNF43     4-0062-003chr17:
56478336-56478337
TCAGintronicDe novo--Trost2022 G
RNF43     2-0149-005chr17:
56435257-56435257
AGexonicDe novononsynonymous SNVNM_001305545
NM_001305544
NM_017763
c.T1499C
c.T1880C
c.T1880C
p.V500A
p.V627A
p.V627A
0.0043.0E-4Trost2022 G
Yuen2017 G
Zhou2022 GE
RNF43     2-1505-004chr17:
56454779-56454781
CCACintronicDe novo--Trost2022 G
Yuen2017 G
RNF43     Chen2017:101chr17:
56435546-56435546
GAexonicDe novononsynonymous SNVNM_001305545
NM_001305544
NM_017763
c.C1210T
c.C1591T
c.C1591T
p.R404C
p.R531C
p.R531C
15.92-Chen2017 E
RNF43     2-1303-003chr17:
56440852-56440857
GCCCCCGCCCCCCintronicDe novo--Yuen2017 G
RNF43     09C99829chr17:
56440852-56440852
GGCintronicDe novo--Satterstrom2020 E
Trost2022 G
RNF43     SP0101199chr17:
56438252-56438252
CAexonicDe novononsynonymous SNVNM_001305545
NM_001305544
NM_017763
c.G360T
c.G741T
c.G741T
p.R120S
p.R247S
p.R247S
12.59-Fu2022 E
Trost2022 G
Zhou2022 GE
RNF43     A6chr17:
56440414-56440414
AGintronicDe novo--Wu2018 G
RNF43     200675669_1082035054chr17:
56435546-56435546
GAexonicDe novononsynonymous SNVNM_001305545
NM_001305544
NM_017763
c.C1210T
c.C1591T
c.C1591T
p.R404C
p.R531C
p.R531C
15.92-Fu2022 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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