1:216270422-216270422 T > C

Classification

Category 4 curation
CMH MAF 21 / 13812 samples (0.152%)
21 het., 0 hom. (100%)
21 / 27624 total alleles (0.076%)

gene: USH2A synonym(s): dJ1111A8.1, RP39, US2, USH2, USH2A, ENSG00000042781

OMIM
OMIM:608400: USH2A (Autosomal recessive inheritance)
OMIM:613809: Retinitis pigmentosa 39
OMIM:276901: Usher syndrome, type 2A

ENST00000307340.3 [intron]
hgvs_c: ENST00000307340.3:c.4758+3A>G
splice impact: five_prime_flank
protein sequence: ENSP00000305941.3

rs117798425
GMAF = 0.002796
TOPMED_MAF = 0.00191927879714576

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

ExAC East Asian, (141 / 7358), 1.92%
gnomAD Other East Asian, (265 / 14338), 1.85% curated_classification = 4