1:158641123-158641124 - > ATTTCTTACT

Classification

Category 1 curation
CMH MAF 1 / 11983 samples (0.00835%)
1 het., 0 hom. (100%)
1 / 23966 total alleles (0.00417%)

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 [intron]
hgvs_c: NM_003126.2:c.1599_1599+9dupAGTAAGAAAT
splice impact: five_prime_intronic
protein sequence: NP_003117.2
curated_classification = 1