11:67807143-67807144 - > C

Classification

Category 5 curation
CMH MAF 1829 / 5628 samples (32.5%)
6 het., 1823 hom. (0.328%)
3652 / 11256 total alleles (32.4%)

gene: TCIRG1 synonym(s): a3, Atp6i, ATP6N1C, ATP6V0A3, OC-116kDa, OC116, OPTB1, Stv1, TIRC7, Vph1, TCIRG1, ENSG00000110719

OMIM
OMIM:604592: TCIRG1 (Autosomal recessive inheritance)
OMIM:259700: Osteopetrosis, autosomal recessive 1

ENST00000265686.3 [intron]
hgvs_c: ENST00000265686.3:c.-5+560dupC
protein sequence: ENSP00000265686.3

rs5792431
GMAF = 1
TOPMED_MAF = 0.99690207696228338

235762
clinvar_significance = Benign

gnomAD East Asian, (1560 / 1560), 100% curated_classification = 5