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Results for "RC3H1"

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
RC3H1     DEASD_0073_001chr1:
173947626-173947626
CTexonicDe novononsynonymous SNVNM_001300850
NM_001300851
NM_001300852
NM_172071
c.G1102A
c.G1102A
c.G1102A
c.G1102A
p.D368N
p.D368N
p.D368N
p.D368N
35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RC3H1     AU1955302chr1:
173999967-173999967
CGintergenicDe novo--Yuen2017 G
RC3H1     Codina-Sola2015:ASD_26chr1:
173912624-173912624
GAexonicMaternalstopgainNM_001300850
NM_001300851
NM_001300852
NM_172071
c.C3091T
c.C3064T
c.C3064T
c.C3091T
p.Q1031X
p.Q1022X
p.Q1022X
p.Q1031X
40.0-Codina-Sola2015 E
RC3H1     1-0214-003chr1:
173975331-173975331
CTintergenicDe novo--Yuen2017 G
RC3H1     iHART2284chr1:
173910519-173910520
CTCsplicingMaternalsplicing-2.472E-5Ruzzo2019 G
RC3H1     302-05-103645chr1:
173962097-173962097
CTexonicDe novosynonymous SNVNM_001300850
NM_001300851
NM_001300852
NM_172071
c.G27A
c.G27A
c.G27A
c.G27A
p.T9T
p.T9T
p.T9T
p.T9T
-2.0E-4Satterstrom2020 E
RC3H1     AU4231301chr1:
174005856-174005856
GAintergenicDe novo--Yuen2017 G
RC3H1     AU4164301chr1:
173951316-173951316
GAintronicDe novo--Yuen2017 G
RC3H1     Chen2017:74chr1:
173947674-173947674
GAexonicDe novostopgainNM_001300850
NM_001300851
NM_001300852
NM_172071
c.C1054T
c.C1054T
c.C1054T
c.C1054T
p.R352X
p.R352X
p.R352X
p.R352X
37.08.237E-6Chen2017 E
RC3H1     1-0485-003chr1:
173967255-173967255
GAintergenicDe novo--Yuen2017 G
RC3H1     2-0304-003chr1:
173920791-173920791
GAintronicDe novo--Yuen2017 G
RC3H1     AU4343302chr1:
174065710-174065710
CTintergenicDe novo--Yuen2017 G
RC3H1     2-1502-003chr1:
174014538-174014538
ACintergenicDe 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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