Gene: FAM187A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179

2018
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300

2016
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568

2015
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714

2013
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229

2012
dbSNP: rs1060503433
rs1060503433
EFTUD2 ; CCDC103 ; FAM187A
T 0.700 CausalMutation CLINVAR

dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
CAG 0.700 CausalMutation CLINVAR

dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
CAG 0.700 GeneticVariation CLINVAR