RGD:9687742 Rat Genome Database

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Variant: RGD:9687742 -  Homo sapiens

RGD ID: 9687742
RS ID: rs200473206
ClinVar ID: CV174383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 7,556,058
GRCh38 6 7,555,825
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_008803.1:g.19189G>A
NC_000006.12:g.7555825G>A
NC_000006.11:g.7556058G>A
LRG_423t1:c.273+5G>A
More... 		12/11/2021 intron variant pathogenic|likely pathogenic|likely benign|uncertain significance childhood|neonatal <1 / 1 000 000 AllHighlyPenetrant; Arrhythmogenic cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic right ventricular dysplasia; Arrhythmogenic right ventricular dysplasia 8; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8; Cardiomyopathies; Cardiomyopathy, ARVC; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; KERATODERMA, PALMOPLANTAR, STRIATE FORM II; Keratosis palmoplantaris striata 2; Keratosis palmoplantaris striata II; Lethal acantholytic epidermolysis bullosa; Long QT syndrome; none provided; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; STRIATE PALMOPLANTAR KERATODERMA II; Woolly hair-skin fragility syndrome

Variant Details
Variant Transcripts
Gene Symbol:DSP
Accession:NM_001008844
Location:INTRON

Gene Symbol:DSP
Accession:NM_004415
Location:INTRON

Gene Symbol:DSP
Accession:NM_001319034
Location:INTRON

Gene Symbol:DSP
Accession:NM_001406591
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:16774985   PMID:17576681   PMID:18382419   PMID:21264154   PMID:21723241   PMID:24033266   PMID:24070718   PMID:25225338   PMID:25741868   PMID:27097650   PMID:28074886  
PMID:28416588   PMID:28492532   PMID:28759816   PMID:30398466   PMID:30847666   PMID:31402444   PMID:31514951   PMID:31737537   PMID:32277046   PMID:32372669   PMID:32826072   PMID:34026522  
PMID:34290054  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150557 CLINVAR
  RCV000157211 CLINVAR
  RCV000157212 CLINVAR
  RCV000232421 CLINVAR
  RCV000239152 CLINVAR
  RCV000589518 CLINVAR
  RCV000776291 CLINVAR
  RCV001160815 CLINVAR
  RCV001162435 CLINVAR
  RCV001162436 CLINVAR
  RCV002433645 CLINVAR
  RCV002492553 CLINVAR
dbSNP (RS) rs200473206 CLINVAR
MedGen C0007193 CLINVAR
  C0349788 CLINVAR
  C0878544 CLINVAR
  C1843292 CLINVAR
  C1843896 CLINVAR
  C1854063 CLINVAR
  C1864826 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene DSP CLINVAR
OMIM 125647 CLINVAR
  605676 CLINVAR
  607450 CLINVAR
  609638 CLINVAR
  612908 CLINVAR
  615821 CLINVAR
  620415 CLINVAR
SNOMED CT 195021004 CLINVAR
  281170005 CLINVAR
  85898001 CLINVAR