11:5248232-5248232 T > A

Classification

Category 1
CMH MAF 88 / 11422 samples (0.77%)
81 het., 7 hom. (92%)
95 / 22844 total alleles (0.416%)

gene: HBB synonym(s): beta-globin, CD113t-C, HBB, ENSG00000244734

OMIM
OMIM:141900: HBB (Autosomal dominant inheritance)
OMIM:141749: Delta-beta thalassemia
OMIM:617980: Erythrocytosis 6
OMIM:140700: Heinz body anemia
OMIM:141749: Hereditary persistence of fetal hemoglobin
OMIM:617971: Methmoglobinemia, beta type
OMIM:603903: Sickle cell anemia
OMIM:613985: Thalassemia, beta
OMIM:603902: Thalassemia-beta, dominant inclusion-body
OMIM:611162: {Malaria, resistance to}

NM_000518.4 [CDS]
hgvs_c: NM_000518.4:c.20A>T
reference AA: E
variant AA: V
reference codon: gAg
variant codon: gTg
cDNA pos: 70
CDS pos: 20
translation impact: non_synonymous
protein sequence: NP_000509.1
AA pos: 7
hgvs_p: NP_000509.1:p.Glu7Val
blosum: -2
SIFT: deleterious (0.01)
PolyPhen2: benign (0.007)

rs193922552
rs334
GMAF = 0.02736
TOPMED_MAF = 0.05823936034658511

15333
clinvar_significance = Pathogenic
clinvar_disease = Heinz body anemia
clinvar_disease = Hb SS disease
clinvar_disease = beta Thalassemia
clinvar_disease = HEMOGLOBIN S
clinvar_disease = Fetal hemoglobin quantitative trait locus 1
clinvar_disease = Beta-thalassemia
36301
clinvar_significance = Likely_pathogenic
clinvar_disease = beta Thalassemia
clinvar_submission_scv = SCV000281507.1

EVS
EVS MAF (European American/African American/All) = 0.000233,0.040209,0.013771

ExAC African, (505 / 10404), 4.85%
gnomAD African, (1088 / 24028), 4.53%