|(A;A)||1||uncertain significance; may be associated with spherocytosis|
|(A;C)||1||uncertain significance; may be associated with spherocytosis|
|(C;C)||0||common in clinvar|
rs35948326, also known as c.2909C>A, p.Ala970Asp, A970D and alpha-IIa, represents a variant in the SPTA1 gene on chromosome 1.
Although reported as associated with autosomal recessive spherocytosis, the rs35948326(A) allele (as reported in dbSNP orientation) may actually be more of a proxy for a truly defective variant that is co-inherited as a result of linkage. That variant is known as alpha-LEPRA.
|Disease||Spherocytosis not specified|
|CLNDBN||Spherocytosis, type 3, autosomal recessive not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.|