RGD:13524019 Rat Genome Database

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Variant: RGD:13524019 -  Homo sapiens

RGD ID: 13524019
RS ID: rs369925943
ClinVar ID: CV489581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,733,672
GRCh38 22 46,337,775
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012173.1:g.7375G>A
NC_000022.11:g.46337775G>A
NC_000022.10:g.46733672G>A
NM_001282782.2:c.-153-4G>A
More...
10/24/2018 intron variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282782
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:NM_001282783
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:NM_001282784
Location:5UTRS;INTRON

Gene Symbol:TRMU
Accession:NM_018006
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282785
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530272
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530273
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Gene Symbol:TRMU
Accession:NR_104240
Location:INTRON;NON-CODING

Gene Symbol:TRMU
Accession:NR_104241
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000593728 CLINVAR
dbSNP (RS) rs369925943 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR