1:158614992-158614992 A > -

Classification

Category 2 frameshift
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: SPTA1 synonym(s): EL2, HPP, HS3, SPH3, SPTA, SPTA1, ENSG00000163554

OMIM
OMIM:182860: SPTA1 (Autosomal dominant inheritance,Heterogeneous)
OMIM:130600: Elliptocytosis-2
OMIM:266140: Pyropoikilocytosis
OMIM:270970: Spherocytosis, type 3

NM_003126.2 [CDS]
hgvs_c: NM_003126.2:c.4180del
reference AA: C
variant AA: X
reference codon: Tgc
variant codon: gc
cDNA pos: 4379
CDS pos: 4180
translation impact: frameshift
protein sequence: NP_003117.2
AA pos: 1394
hgvs_p: NP_003117.2:p.Cys1394AlafsTer25
blosum: -2

rs779174182
TOPMED_MAF = 0.00000796381243628

ExAC America/Latino, (3 / 11506), 0.0261%
gnomAD America/Latino, (3 / 34484), 0.0087%