Variant ID: 1-201263069-G-T

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

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

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>T
PMID: 25565931
View BVdb publication page


Alternative transcript annotations:

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