RGD:15199574 Rat Genome Database

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Variant: RGD:15199574 -  Homo sapiens

RGD ID: 15199574
RS ID: rs201451028
ClinVar ID: CV760793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,796,640
GRCh38 21 42,376,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011629.2:g.24561C>T
NC_000021.9:g.42376531G>A
NC_000021.8:g.43796640G>A
NM_024022.2:c.1194+10C>T
More... 		01/04/2019 intron variant benign|likely benign|uncertain significance Deafness, autosomal recessive 10; Deafness, autosomal recessive 8; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMPRSS3
Accession:NM_032405
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_001256317
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_024022
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_032404
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000912588 CLINVAR
  RCV001142459 CLINVAR
dbSNP (RS) rs201451028 CLINVAR
MedGen C1832827 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMPRSS3 CLINVAR
OMIM 601072 CLINVAR
  605316 CLINVAR
  605511 CLINVAR