Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CLDN1

Gene name: claudin 1
OMIM ID: 603718
Chromosome location: 3q28

Mutations

Disease/PhenotypeIchthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Reference transcriptNM_021101.4
DNA Changec.200_201delTT
A.A. Changep.Phe67X
Exon/Intronexon 1
Mutation Typedeletion
ReferenceNagtzaam IF, van Geel M, Driessen A, Steijlen PM, van Steensel MA.Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
Br J Dermatol. 2010 Jul;163(1):205-7.