RGD:28899689 Rat Genome Database

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Variant: RGD:28899689 -  Homo sapiens

RGD ID: 28899689
RS ID: rs1209308277
ClinVar ID: CV887514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,800,221
GRCh38 21 42,380,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256317.3:c.1048+5G>A
NC_000021.9:g.42380112C>T
NG_011629.2:g.20980G>A
NC_000021.8:g.43800221C>T
More... 		01/13/2018 intron variant uncertain significance Deafness, autosomal recessive 10; Deafness, autosomal recessive 8; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8
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_024022
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_032404
Location:INTRON

Gene Symbol:TMPRSS3
Accession:NM_001256317
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142462 CLINVAR
dbSNP (RS) rs1209308277 CLINVAR
MedGen C1832827 CLINVAR
NCBI Gene TMPRSS3 CLINVAR
OMIM 601072 CLINVAR
  605316 CLINVAR
  605511 CLINVAR