RGD:150545250 Rat Genome Database

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Variant: RGD:150545250 -  Homo sapiens

RGD ID: 150545250
RS ID: rs1555914369
ClinVar ID: CV1315502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,941,997
GRCh38 21 44,522,114
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.1133-2A>G
NM_144991.3:c.1337-2A>G
NG_033806.1:g.194465A>G
NC_000021.9:g.44522114T>C
More... 		03/18/2020 splice acceptor variant likely pathogenic 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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001783919 CLINVAR
dbSNP (RS) rs1555914369 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR