Variant ID: 1-201288898-A-C

NM_000299.3(PKP1):c.1233-46A>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:

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.

Annals Of Dermatology
N Laroussi, O Messaoud, M Chargui, C Ben Fayala, A Elahlafi, M Mokni, A Bashamboo, K McElreavey, MS Boubaker, H Yacoub Youssef, S Abdelhak
Publication Date: 2017-04

Variant appearance in text: rs1722759
PMID: 28392661
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.1233-46A>C - intron_variant - 6/14
ENST00000352845.3 c.1233-46A>C - intron_variant - 6/13
ENST00000367324.3 c.1233-497A>C - intron_variant - 6/13
ENST00000475988.1 n.575-46A>C - intron_variant,non_coding_transcript_variant - 4/4
NM_000299.3 c.1233-46A>C - intron_variant - 6/14
NM_001005337.3 c.1233-497A>C - intron_variant - 6/13