rs79891110, CACNA1C

N. diseases: 6
Disease: Hydrops Fetalis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
0.010 GeneticVariation BEFREE Here, we report retrospectively an unusual fetal presentation on a second patient with TS1 with fetal hydrops due to a congenital AV block and its postnatal diagnosis by a marked prolongation of the corrected QTc interval of 570 ms and a missense mutation, p.Gly406Arg, in exon 8A of CACNA1C gene. 25882468 2016