RGD:10042006 Rat Genome Database

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Variant: RGD:10042006 -  Homo sapiens

RGD ID: 10042006
RS ID: rs161380
ClinVar ID: CV186968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRPV1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 3,504,326
GRCh38 17 3,601,032
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_029716.1:g.13380T>C
NC_000017.11:g.3601032A>G
NC_000017.10:g.3504326A>G
NM_080704.4:c.-34+7395T>C
More... 		01/14/2015 intron variant benign neonatal/infancy 1-9 / 1 000 000 Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; Cystinosin, defect of; Lysosomal cystine transport protein, defect of
Disease Annotations     Click to see Annotation Detail View
cystinosis  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:TRPV1
Accession:NM_080704
Location:5UTRS;INTRON

Gene Symbol:TRPV1
Accession:NM_080706
Location:INTRON

Gene Symbol:TRPV1
Accession:NM_018727
Location:INTRON

Gene Symbol:TRPV1
Accession:NM_080705
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21546516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000169540 CLINVAR
dbSNP (RS) rs161380 CLINVAR
MedGen C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
  TRPV1 CLINVAR
OMIM 219800 CLINVAR
  602076 CLINVAR
  606272 CLINVAR