GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Disease: Hypoparathyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894165
rs104894165
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
CUI: C0020626
Disease:
Hypoparathyroidism 		0.010 GeneticVariation BEFREE We identified three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness: 1) a frameshift deletion occurring in codon 160 (478delG) was hypothesized to disrupt dual zinc fingers as well as one transactivating domain; 2) a donor splice site mutation at exon 4/intron 4 boundary (IVS4 + 2 T to GCTTACTTCCC) was predicted to lead to truncated GATA3 proteins that lack both N- and C-terminal zinc-containing fingers; and 3) a missense mutation R353S was predicted to disrupt the helical turn and thus changed the angle between the C-terminal zinc finger and the adjacent C-terminal tail. 16912130 2006