RGD:150423650 Rat Genome Database

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Variant: RGD:150423650 -  Homo sapiens

RGD ID: 150423650
RS ID: rs148120368
ClinVar ID: CV1185696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,739,323
GRCh38 22 46,343,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282783.2:c.-6-2996C>A
NM_001282784.2:c.-6-2996C>A
NM_001282782.2:c.14-2996C>A
NM_001282785.2:c.355+58C>A
More...
10/05/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282784
Location:5UTRS;INTRON

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

Gene Symbol:TRMU
Accession:NM_001282785
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530273
Location:INTRON

Gene Symbol:TRMU
Accession:XM_011530272
Location:INTRON

Gene Symbol:TRMU
Accession:NM_001282782
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:NM_018006
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001555615 CLINVAR
dbSNP (RS) rs148120368 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR