RGD:11623292 Rat Genome Database

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Variant: RGD:11623292 -  Homo sapiens

RGD ID: 11623292
RS ID: rs200955758
ClinVar ID: CV328087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,430,236
GRCh38 17 3,526,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032144.2:g.36054C>T
NC_000017.11:g.3526942G>A
NC_000017.10:g.3430236G>A
NM_001258205.2:c.1504-15C>T
More... 		01/13/2018 intron variant benign|likely benign infancy <1 / 1 000 000 none provided; Palmoplantar keratoderma, nonepidermolytic, focal 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPV3
Accession:NM_145068
Location:INTRON

Gene Symbol:TRPV3
Accession:NM_001258205
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000371320 CLINVAR
  RCV002522931 CLINVAR
dbSNP (RS) rs200955758 CLINVAR
MedGen C3661900 CLINVAR
  C4225339 CLINVAR
NCBI Gene TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR