RGD:11624835 Rat Genome Database

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Variant: RGD:11624835 -  Homo sapiens

RGD ID: 11624835
RS ID: rs773523427
ClinVar ID: CV328085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 3,424,266
GRCh38 17 3,520,972
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.42024G>A
NC_000017.11:g.3520972C>T
NC_000017.10:g.3424266C>T
NM_001258205.2:c.1810+1G>A
More... 		04/27/2017 splice donor variant uncertain significance infancy <1 / 1 000 000 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 Information

Database Acc Id Source(s)
ClinVar RCV000391064 CLINVAR
dbSNP (RS) rs773523427 CLINVAR
MedGen C4225339 CLINVAR
NCBI Gene TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR