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Results for "RUBCNL"

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
RUBCNL     SP0069412chr13:
46917682-46917682
ACintronicDe novo--Fu2022 E
RUBCNL     7-0254-004chr13:
46944478-46944478
TCintronicDe novo--Trost2022 G
Yuen2017 G
RUBCNL     JASD_Fam0254chr13:
46933633-46933633
TGexonicDe novononsynonymous SNVNM_001286766
NM_001286762
NM_001286764
NM_001286765
NM_001286761
NM_001286763
NM_025113
c.A608C
c.A1253C
c.A848C
c.A782C
c.A1253C
c.A1052C
c.A1253C
p.H203P
p.H418P
p.H283P
p.H261P
p.H418P
p.H351P
p.H418P
18.28-Takata2018 E
RUBCNL     7-0191-003chr13:
46923881-46923881
GAintronicDe novo--Trost2022 G
Yuen2017 G
RUBCNL     1-1144-003chr13:
46960491-46960491
AGintronicDe novo--Trost2022 G
RUBCNL     REACH000738chr13:
46945388-46945392
AAATTAintronicDe novo--Trost2022 G
RUBCNL     7-0379-003chr13:
46960356-46960356
AGintronicDe novo--Trost2022 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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