KEGG VARIANT: 6100v1

VARIANT: 6100v1

Entry

6100v1                      Variant

Name

RP9 mutation

Type

Loss of function

Gene

RP9 RP9 pre-mRNA splicing factor [KO:K19604]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 607331

Network

nt06547 Spliceosome

Disease

Retinitis pigmentosa

Reference

Authors

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF

Title

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Journal

Eur J Hum Genet 10:245-9 (2002)
DOI:10.1038/sj.ejhg.5200797

LinkDB

DBGET integrated database retrieval system