RGD:11632315 Rat Genome Database

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Variant: RGD:11632315 -  Homo sapiens

RGD ID: 11632315
RS ID: rs751114709
ClinVar ID: CV350742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 43,795,985
GRCh38 21 42,375,876
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.42375876A>G
NC_000021.8:g.43795985A>G
NG_011629.2:g.25216T>C
NM_024022.2:c.1195-8T>C
More... 		11/07/2023 intron variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View
Hearing Loss  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:TMPRSS3
Accession:NM_032404
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_001256317
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_032405
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_024022
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000404949 CLINVAR
  RCV003708523 CLINVAR
dbSNP (RS) rs751114709 CLINVAR
MedGen C3661900 CLINVAR
  CN239439 CLINVAR
NCBI Gene TMPRSS3 CLINVAR
OMIM 605511 CLINVAR