Orphanet: ribosomal protein L10

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RPL10 - ribosomal protein L10

Synonym(s) : DXS648, DXS648E, FLJ23544, L10, NOV, QM
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : Xq28
OMIM: 312173
HGNC: 10298
UniProtKB: P27635
Genatlas: RPL10
Ensembl: ENSG00000147403
IUPHAR-DB: -
Reactome: P27635
LOVD: RPL10

Diseases list

Disease-causing germline mutation(s) in X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
Disease-causing germline mutation(s) (loss of function) in X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome ORPHA:435938

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (0)

Research activities on this gene

Specialised Social Services

Eurordis directory

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