RGD:14731643 Rat Genome Database

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Variant: RGD:14731643 -  Homo sapiens

RGD ID: 14731643
RS ID: rs77407648
ClinVar ID: CV663552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UQCRB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 97,243,789
GRCh38 8 96,231,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.96231561G>C
NC_000008.10:g.97243789G>C
NM_006294.3:c.258+213C>G
NM_001199975.3:c.162+213C>G
More...
06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UQCRB
Accession:NM_001199975
Location:INTRON

Gene Symbol:UQCRB
Accession:NM_001254752
Location:INTRON

Gene Symbol:UQCRB
Accession:NM_006294
Location:INTRON

Gene Symbol:UQCRB
Accession:NR_045639
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000836226 CLINVAR
dbSNP (RS) rs77407648 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UQCRB CLINVAR
OMIM 191330 CLINVAR