RGD:11647494 Rat Genome Database

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Variant: RGD:11647494 -  Homo sapiens

RGD ID: 11647494
RS ID: rs886061754
ClinVar ID: CV301070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSP  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 7,586,497
GRCh38 6 7,586,264
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
LRG_423:g.49628G>T
NG_008803.1:g.49628G>T
NC_000006.12:g.7586264G>T
NC_000006.11:g.7586497G>T
More...
06/14/2016 3 prime utr variant uncertain significance childhood|infancy|neonatal <1 / 1 000 000 Arrhythmogenic right ventricular dysplasia; Cardiomyopathy, ARVC; Ectodermal dysplasia skin fragility syndrome; Mcgrath syndrome

Variant Details
Variant Transcripts
Gene Symbol:DSP
Accession:NM_004415
Location:3UTRS;EXON

Gene Symbol:DSP
Accession:NM_001008844
Location:3UTRS;EXON

Gene Symbol:DSP
Accession:NM_001319034
Location:3UTRS;EXON

Gene Symbol:DSP
Accession:NM_001406591
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276895 CLINVAR
  RCV000278317 CLINVAR
  RCV000331947 CLINVAR
  RCV000372831 CLINVAR
dbSNP (RS) rs886061754 CLINVAR
MedGen C0349788 CLINVAR
  C1843292 CLINVAR
  C1858302 CLINVAR
  C1864826 CLINVAR
NCBI Gene DSP CLINVAR
OMIM 125647 CLINVAR
  604536 CLINVAR
  609638 CLINVAR
  620415 CLINVAR
SNOMED CT 281170005 CLINVAR