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Results for "RNF144A"

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
RNF144A     4-0040-003chr2:
7184552-7184554
TTGAATdownstreamDe novo--Trost2022 G
RNF144A     REACH000086chr2:
7170831-7170831
GCintronicDe novo--Trost2022 G
RNF144A     1-0006-003chr2:
7102247-7102247
GAintronicDe novo--Trost2022 G
Yuen2017 G
RNF144A     SP0118279chr2:
7183569-7183569
TCUTR3De novo--Fu2022 E
Trost2022 G
RNF144A     REACH000086chr2:
7193387-7193387
GCintergenicDe novo--Trost2022 G
RNF144A     3-0663-000chr2:
7144325-7144325
ACintronicDe novo--Trost2022 G
RNF144A     MT_156.3chr2:
7167486-7167486
AGintronicDe novo--Trost2022 G
RNF144A     REACH000525chr2:
7161063-7161063
CTintronicDe novo--Trost2022 G
RNF144A     2-0296-003chr2:
7168627-7168627
AGintronicDe novo--Trost2022 G
Yuen2017 G
RNF144A     SP0012788chr2:
7184025-7184025
AGUTR3De novo--Fu2022 E
Trost2022 G
RNF144A     74-0265chr2:
7101172-7101172
AGintronicInherited--Michaelson2012 G
RNF144A     2-0225-004chr2:
7133353-7133353
GTintronicDe novo--Trost2022 G
Yuen2017 G
RNF144A     A29chr2:
7068223-7068223
CTintronicDe novo--Wu2018 G
Source Variant Information

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Source:

Paper alias:

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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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