RGD:126738002 Rat Genome Database

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Variant: RGD:126738002 -  Homo sapiens

RGD ID: 126738002
RS ID: rs182590005
ClinVar ID: CV1022047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,924,644
GRCh38 21 44,504,761
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.1856+19C>T
NG_033806.1:g.211818C>T
NC_000021.9:g.44504761G>A
NM_001272037.2:c.1652+19C>T
More... 		10/17/2022 intron variant benign|likely benign|uncertain significance Deafness, autosomal recessive 98; none provided
Disease Annotations     Click to see Annotation Detail View


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   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001335430 CLINVAR
  RCV001552662 CLINVAR
dbSNP (RS) rs182590005 CLINVAR
MedGen C3553932 CLINVAR
  C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR
  614861 CLINVAR