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rs386833445

From SNPedia

ClinVar
Risk rs386833445(GATGCC;GATGCC)
Alt rs386833445(GATGCC;GATGCC)
Reference rs386833445(TTCGGCATCGCAATGGTT;TTCGGCATCGCAATGGTT)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107423722_107423739del18insGGCATC
CLNSRC ClinVar
CLNACC RCV000049372.1,


[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.