14:58923419-58923419 G > C

Classification

Category 1
CMH MAF 7 / 11944 samples (0.0586%)
7 het., 0 hom. (100%)
7 / 23888 total alleles (0.0293%)

gene: KIAA0586 synonym(s): Talpid3, KIAA0586, ENSG00000100578

OMIM
OMIM:610178: KIAA0586
OMIM:616490: Joubert syndrome 23
OMIM:616546: Short-rib thoracic dysplasia 14 with polydactyly

NM_001244189.1 [intron]
hgvs_c: NM_001244189.1:c.1413-1G>C
splice impact: acceptor_site
protein sequence: NP_001231118.1

rs757350052
TOPMED_MAF = 0.00010352956167176

204594
clinvar_significance = Pathogenic
clinvar_disease = Joubert syndrome 23
clinvar_disease = Short-rib thoracic dysplasia 14 with polydactyly

ExAC Non-Finnish, (5 / 33864), 0.0148%
gnomAD North-Western European, (9 / 39824), 0.0226%