Variant ID: 1-201285776-C-A

NM_000299.3(PKP1):c.797C>A;(p.Ala266Asp)

This variant was identified in 1 publication




Publications:


Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

Plos One
SM Lee, M Chung, JW Hyeon, SW Jeong, YR Ju, H Kim, J Lee, S Kim, SS An, SB Cho, YS Lee, SY Kim
Publication Date: 2016

Variant appearance in text: PKP1: A266D
PMID: 27341347
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.797C>A p.Ala266Asp missense_variant 4/15 -
ENST00000352845.3 c.797C>A p.Ala266Asp missense_variant 4/14 -
ENST00000367324.3 c.797C>A p.Ala266Asp missense_variant 4/14 -
ENST00000475988.1 n.139C>A - non_coding_transcript_exon_variant 2/5 -
NM_000299.3 c.797C>A p.Ala266Asp missense_variant 4/15 -
NM_001005337.3 c.797C>A p.Ala266Asp missense_variant 4/14 -