RGD:150412207 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150412207 -  Homo sapiens

RGD ID: 150412207
RS ID: rs587736431
ClinVar ID: CV1199290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,941,743
GRCh38 21 44,521,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.1362+23C>T
NM_144991.3:c.1566+23C>T
NC_000021.9:g.44521860G>A
NC_000021.8:g.45941743G>A
More...
09/08/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001574291 CLINVAR
dbSNP (RS) rs587736431 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR