Variant ID: 1-201263069-G-A

NM_000299.3(PKP1):c.203-1G>A

This variant was identified in 1 publication




Publications:


A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.

Molecular Syndromology
EM Abdalla, C Has
Publication Date: 2014-12

Variant appearance in text: PKP1: 203-1G>A
PMID: 25565931
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.203-1G>A - splice_acceptor_variant - 1/14
ENST00000352845.3 c.203-1G>A - splice_acceptor_variant - 1/13
ENST00000367324.3 c.203-1G>A - splice_acceptor_variant - 1/13
NM_000299.3 c.203-1G>A - splice_acceptor_variant - 1/14
NM_001005337.3 c.203-1G>A - splice_acceptor_variant - 1/13