RGD:150468320 Rat Genome Database

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Variant: RGD:150468320 -  Homo sapiens

RGD ID: 150468320
RS ID: rs202075180
ClinVar ID: CV1207399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,945,742
GRCh38 21 44,525,859
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144991.3:c.1150-20C>T
NC_000021.9:g.44525859G>A
NC_000021.8:g.45945742G>A
NM_001272037.2:c.946-20C>T
More... 		05/28/2021 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001588088 CLINVAR
dbSNP (RS) rs202075180 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR