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Results for "RNH1"

Variant Events: 7

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
RNH1     AU3790302chr11:
517273-517273
GAintergenicDe novo--Yuen2017 G
RNH1     2-0129-005chr11:
499870-499870
GAexonicDe novosynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
c.C402T
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
p.C134C
--Yuen2015 G
Yuen2017 G
RNH1     13447.p1chr11:
494988-494988
TGexonicDe novononsynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387
c.A1193C
c.A1193C
c.A1193C
c.A1193C
c.A1193C
c.A1193C
c.A1193C
c.A1193C
p.H398P
p.H398P
p.H398P
p.H398P
p.H398P
p.H398P
p.H398P
p.H398P
1.796-Krumm2015 E
RNH1     AU4013301chr11:
526788-526788
TCintergenicDe novo--Yuen2017 G
RNH1     Kim2020:B33chr11:
499976-499976
CTexonicDe novononsynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
0.001-Kim2020 E
RNH1     AU3918302chr11:
498748-498748
GAintronicDe novo-1.822E-5Yuen2017 G
RNH1     SP0000626chr11:
497980-497980
CTexonicDe novononsynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
6.3983.361E-5Feliciano2019 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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