RGD:11628988 Rat Genome Database

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Variant: RGD:11628988 -  Homo sapiens

RGD ID: 11628988
RS ID: rs141061726
ClinVar ID: CV345562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885469  TRPV3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 3,431,306
GRCh38 17 3,528,012
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.34984C>G
NC_000017.11:g.3528012G>C
NC_000017.10:g.3431306G>C
NM_001258205.2:c.1503+13C>G
More... 		12/10/2021 intron variant 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 RCV000313213 CLINVAR
  RCV001643006 CLINVAR
dbSNP (RS) rs141061726 CLINVAR
MedGen C3661900 CLINVAR
  C4225339 CLINVAR
NCBI Gene TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR