Variant ID: 1-201253033-G-C

NM_000299.3(PKP1):c.202+1G>C

This variant was identified in 1 publication



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

Publications:

Canine and Feline Models of Human Genetic Diseases and Their Contributions to Advancing Clinical Therapies
.

The Yale Journal Of Biology And Medicine
BL Gurda, AM Bradbury, CH Vite
Publication Date: 2017-09

Variant appearance in text: PKP1: 202+1G>C
PMID: 28955181
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.202+1G>C - splice_donor_variant - 1/14
ENST00000352845.3 c.202+1G>C - splice_donor_variant - 1/13
ENST00000367324.3 c.202+1G>C - splice_donor_variant - 1/13
NM_000299.3 c.202+1G>C - splice_donor_variant - 1/14
NM_001005337.3 c.202+1G>C - splice_donor_variant - 1/13