RGD:156077022 Rat Genome Database

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Variant: RGD:156077022 -  Homo sapiens

RGD ID: 156077022
ClinVar ID: CV2053504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 918,669
GRCh38 19 918,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032551.5:c.369+1G>T
NG_008277.1:g.6328G>T
NC_000019.10:g.918669G>T
NC_000019.9:g.918669G>T
09/30/2022 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:KISS1R
Accession:XM_047439545
Location:INTRON

Gene Symbol:KISS1R
Accession:NM_032551
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20371656   PMID:22619348   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002823733 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 604161 CLINVAR