1:94461749-94461749 C > T

Classification

Category 5 curation
CMH MAF 188 / 13144 samples (1.43%)
182 het., 6 hom. (96.8%)
194 / 26288 total alleles (0.738%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: ABCA4 synonym(s): ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, ABCA4, ENSG00000198691

OMIM
OMIM:601691: ABCA4
OMIM:604116: Cone-rod dystrophy 3
OMIM:248200: Fundus flavimaculatus
OMIM:248200: Retinal dystrophy, early-onset severe
OMIM:601718: Retinitis pigmentosa 19
OMIM:248200: Stargardt disease 1
OMIM:153800: {Macular degeneration, age-related, 2}

ENST00000370225.3 [CDS]
hgvs_c: ENST00000370225.3:c.6732G>A
reference AA: V
variant AA: V
reference codon: gtG
variant codon: gtA
cDNA pos: 6819
CDS pos: 6732
translation impact: synonymous
protein sequence: ENSP00000359245.3
AA pos: 2244
hgvs_p: ENSP00000359245.3:p.Val2244=
blosum: 4

rs77293072
GMAF = 0.02915
TOPMED_MAF = 0.02584257135575942

99492
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Macular degeneration
clinvar_disease = Stargardt disease 1
clinvar_disease = Cone-Rod Dystrophy

EVS
EVS MAF (European American/African American/All) = 0.000233,0.076033,0.025911

ExAC African, (878 / 10388), 8.45%
COSMIC Mutation ID = COSV64675913
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (2135 / 24956), 8.56% curated_classification = 5