Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 40107 single nucleotide variant NM_152498.3(CFAP57):c.1567G>T (p.Asp523Tyr) 387907122 MedGen:C1847604,OMIM:606713 1 43672415 43672415 G T 40107 single nucleotide variant NM_152498.3(CFAP57):c.1567G>T (p.Asp523Tyr) 387907122 MedGen:C1847604,OMIM:606713 1 43206744 43206744 G T

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000243710.7 CFAP57 614259