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

POP1

Gene name: POP1 homolog, ribonuclease P/MRP subunit
OMIM ID: 602486
Chromosome location: 8q22.2

Mutations

Disease/PhenotypeAnauxetic dysplasia
Reference transcriptNM_001145860.1
DNA Changec.1744C>T
A.A. Changep.Pro582Ser
Exon/Intronexon 13
Mutation Typesubstitution
ReferenceElalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A. Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6.