RGD:11652282 Rat Genome Database

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Variant: RGD:11652282 -  Homo sapiens

RGD ID: 11652282
RS ID: rs886052858
ClinVar ID: CV338017
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,461,144
GRCh38 17 3,557,850
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.5146C>T
NC_000017.11:g.3557850G>A
NC_000017.10:g.3461144G>A
NM_145068.3:c.-177C>T
More...
06/14/2016 5 prime utr variant uncertain significance infancy <1 / 1 000 000 Palmoplantar keratoderma, nonepidermolytic, focal 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304163 CLINVAR
dbSNP (RS) rs886052858 CLINVAR
MedGen C4225339 CLINVAR
NCBI Gene TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR