RGD:11585295 Rat Genome Database

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Variant: RGD:11585295 -  Homo sapiens

RGD ID: 11585295
RS ID: rs10920175
ClinVar ID: CV279691
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 201,300,842
GRCh38 1 201,331,714
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_000299.4:c.*1673T>C
NG_023337.1:g.53263T>C
NC_000001.11:g.201331714T>C
NC_000001.10:g.201300842T>C
More... 		06/14/2016 3 prime utr variant benign 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 RCV000279902 CLINVAR
dbSNP (RS) rs10920175 CLINVAR
MedGen C1858302 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR
  604536 CLINVAR