SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Disease: ELLIPTOCYTOSIS 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		0.700 GeneticVariation UNIPROT Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		0.700 GeneticVariation UNIPROT Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. 8018926 1994
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		0.700 GeneticVariation UNIPROT Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
dbSNP: rs121918648
rs121918648
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
CUI: C1866810
Disease:
ELLIPTOCYTOSIS 3 		0.700 GeneticVariation UNIPROT Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. 1975598 1990