RGD:11663460 Rat Genome Database

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Variant: RGD:11663460 -  Homo sapiens

RGD ID: 11663460
RS ID: rs886057090
ClinVar ID: CV350731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMPRSS3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,792,179
GRCh38 21 42,372,070
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.42372070C>T
NC_000021.8:g.43792179C>T
NM_024022.2:c.*692G>A
NM_024022.4:c.*692G>A
More... 		01/12/2018 3 prime utr 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_024022
Location:3UTRS;EXON

Gene Symbol:TMPRSS3
Accession:NM_001256317
Location:3UTRS;EXON

Gene Symbol:TMPRSS3
Accession:NM_032404
Location:3UTRS;EXON

Gene Symbol:TMPRSS3
Accession:NM_032405
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000396339 CLINVAR
dbSNP (RS) rs886057090 CLINVAR
MedGen C1832827 CLINVAR
NCBI Gene TMPRSS3 CLINVAR
OMIM 601072 CLINVAR
  605316 CLINVAR
  605511 CLINVAR