Mendelian Diseases
Multifactorial Diseases
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

RMRP

Gene name: RNA component of mitochondrial RNA processing endoribonuclease
OMIM ID: 157660
Chromosome location: 9p13.3

Mutations

Disease/PhenotypeCartilage-hair hypoplasia
Reference transcriptNR_003051.3
DNA Changeg.27G>C
A.A. Change
Exon/Intron
Mutation Typesubstitution
ReferenceCherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.
Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11.
Disease/PhenotypeCartilage-hair hypoplasia
Reference transcriptNR_003051.3
DNA Changeg.97G>A
A.A. Change
Exon/Intron
Mutation Typesubstitution
ReferenceCherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.
Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11.