SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840788
rs116840788
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832567
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 		0.010 GeneticVariation BEFREE We here report two novel heterozygous mutations, 96C>G (N32K) and 128T>A (V43E), in the CAV3 gene in two unrelated Japanese families with LGMD-1C. 15564037 2004