RGD:150418019 Rat Genome Database

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Variant: RGD:150418019 -  Homo sapiens

RGD ID: 150418019
RS ID: rs140277038
ClinVar ID: CV1195583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,946,958
GRCh38 21 44,527,075
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.1149+217C>T
NM_001272037.2:c.945+217C>T
NG_033806.1:g.189504C>T
NC_000021.9:g.44527075G>A
More... 		12/14/2018 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 RCV001569025 CLINVAR
dbSNP (RS) rs140277038 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR