RGD:11660262 Rat Genome Database

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Variant: RGD:11660262 -  Homo sapiens

RGD ID: 11660262
RS ID: rs886045821
ClinVar ID: CV279808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,300,578
GRCh38 1 201,331,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_023337.1:g.52999C>T
NC_000001.11:g.201331450C>T
NC_000001.10:g.201300578C>T
NM_001005337.3:c.*1409C>T
More... 		06/14/2016 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:PKP1
Accession:NM_001005337
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000365519 CLINVAR
dbSNP (RS) rs886045821 CLINVAR
MedGen C1858302 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR
  604536 CLINVAR