RGD:8560018 Rat Genome Database

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Variant: RGD:8560018 -  Homo sapiens

RGD ID: 8560018
RS ID: rs1558193923
ClinVar ID: CV22644
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,289,393
GRCh38 1 201,320,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001005337.3:c.1233-2A>T
NC_000001.11:g.201320265A>T
NC_000001.10:g.201289393A>T
NG_023337.1:g.41814A>T
More... 		09/05/2003 splice acceptor variant pathogenic neonatal/infancy Ectodermal dysplasia skin fragility syndrome; Mcgrath syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKP1
Accession:NM_000299
Location:INTRON

Gene Symbol:PKP1
Accession:NM_001005337
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10951270  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008043 CLINVAR
dbSNP (RS) rs1558193923 CLINVAR
MedGen C1858302 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR
  604536 CLINVAR
OMIM Allele 601975.0003 CLINVAR