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Results for "C3orf20"

Variant Events: 13

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
C3orf20     1-0394-003chr3:
14847940-14847940
TCintergenicDe novo--Yuen2017 G
C3orf20     1-0197-004chr3:
14771821-14771821
GAintronicDe novo--Yuen2017 G
C3orf20     Lim2017:31746chr3:
14768527-14768527
CTexonicDe novosynonymous SNVNM_001184957
NM_001184958
NM_032137
c.C1320T
c.C1320T
c.C1686T
p.A440A
p.A440A
p.A562A
-2.472E-5Lim2017 E
C3orf20     1-0885-003chr3:
14836314-14836314
TCintergenicDe novo--Yuen2017 G
C3orf20     1-0332-003chr3:
14716652-14716652
TTAGCUTR5De novo--Yuen2017 G
C3orf20     1-0180-004chr3:
14816845-14816845
GAintergenicDe novo--Yuen2017 G
C3orf20     2-1246-003chr3:
14752370-14752370
GCintronicDe novo--Yuen2017 G
C3orf20     AU031404chr3:
14808948-14808948
AGintronicDe novo--Yuen2017 G
C3orf20     13265.p1chr3:
14768527-14768527
CTexonicDe novosynonymous SNVNM_001184957
NM_001184958
NM_032137
c.C1320T
c.C1320T
c.C1686T
p.A440A
p.A440A
p.A562A
-2.472E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
C3orf20     AU4283301chr3:
14851218-14851218
GAintergenicDe novo--Yuen2017 G
C3orf20     iHART2645chr3:
14731513-14731514
CACexonicMaternalframeshift deletionNM_001184957
NM_001184958
NM_032137
c.270delA
c.270delA
c.636delA
p.A90fs
p.A90fs
p.A212fs
-3.295E-5Ruzzo2019 G
C3orf20     EGAN00001101067chr3:
14814327-14814327
CAexonicDe novononsynonymous SNVNM_001184957
NM_001184958
NM_032137
c.C2294A
c.C2294A
c.C2660A
p.P765H
p.P765H
p.P887H
15.35-Satterstrom2020 E
C3orf20     2-1281-003chr3:
14721641-14721641
AGintronicDe novo--Yuen2017 G
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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