RGD:126740074 Rat Genome Database

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Variant: RGD:126740074 -  Homo sapiens

RGD ID: 126740074
RS ID: rs1718894157
ClinVar ID: CV1019969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HTT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 3,190,674
GRCh38 4 3,188,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_763t1:c.5226-4G>T
NM_001388492.1:c.5226-4G>T
NM_002111.8:c.5226-4G>T
LRG_763:g.119273G>T
More... 		03/02/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HTT
Accession:NM_001388492
Location:INTRON

Gene Symbol:HTT
Accession:NM_002111
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001335908 CLINVAR
dbSNP (RS) rs1718894157 CLINVAR
MedGen C4479491 CLINVAR
NCBI Gene HTT CLINVAR
OMIM 613004 CLINVAR
  617435 CLINVAR