GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter) AND Ciliary dyskinesia, primary, 12

Significance: Pathogenic
ClinVar: RCV000057517

Variant: NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)

Type: Variant
Allele: NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter) 77880
Gene:
Type: single nucleotide variant
Location: Chr6: 43645150 - assembly GRCh38
Chr6: 43612887 - assembly GRCh37
References: dbSNP: 397515488
OMIM: 612648.0003

Condition

Disease: Ciliary dyskinesia, primary, 12

Citation

    In a family with primary ciliary dyskinesia (CILD12; 612650) without situs inversus, Kott et al. (2013) identified a homozygous c.52C-T transition in the RSPH9 gene, resulting in a gln18-to-ter (Q18X) substitution. Transmission electron microscopy showed that a variable proportion of cilia on respiratory epithelial cells had central complex defects. Radial spokes were absent in cilia with no central microtubule complex.
PMID:23993197