RGD:13527023 Rat Genome Database

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Variant: RGD:13527023 -  Homo sapiens

RGD ID: 13527023
RS ID: rs192955018
ClinVar ID: CV497834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,953,818
GRCh38 21 44,533,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.44533935G>A
NG_033806.1:g.182644C>T
NC_000021.8:g.45953818G>A
NM_001272037.2:c.100-12C>T
More... 		11/02/2021 intron variant benign AllHighlyPenetrant; 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:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604908 CLINVAR
  RCV001653944 CLINVAR
dbSNP (RS) rs192955018 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR