RGD:152097554 Rat Genome Database

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Variant: RGD:152097554 -  Homo sapiens

RGD ID: 152097554
RS ID: rs201633203
ClinVar ID: CV1639684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,919,824
GRCh38 21 44,499,941
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.1857-5C>T
NG_033806.1:g.216638C>T
NC_000021.8:g.45919824G>A
NM_001272037.2:c.1653-5C>T
More... 		02/20/2021 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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002078554 CLINVAR
dbSNP (RS) rs201633203 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR