RGD:405108777 Rat Genome Database

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Variant: RGD:405108777 -  Homo sapiens

RGD ID: 405108777
ClinVar ID: CV3136725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126653398  TSPEAR  TSPEAR-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,929,289
GRCh38 21 44,509,406
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.1363-20C>T
NM_144991.3:c.1567-20C>T
NG_081891.1:g.1120G>A
NG_033806.2:g.207166C>T
More...
09/19/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR-AS1
Accession:NR_103707
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003835879 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC126653398 CLINVAR
  TSPEAR CLINVAR
  TSPEAR-AS1 CLINVAR
OMIM 612920 CLINVAR