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rs116840754

From SNPedia

OMIM165240
Desc
Variant0017
Relatedalso
ClinVar
Risk rs116840754(;)
Alt rs116840754(;)
Reference rs116840754(CTTCCTCTGACCGATGGAG;CTTCCTCTGACCGATGGAG)
Significance Pathogenic
Disease Pallister-Hall syndrome
Variation info
Gene GLI3
CLNDBN Pallister-Hall syndrome
Reversed 1
HGVS NC_000007.13:g.42007419_42007437del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000014841.24,


[PMID 10945658] Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.


[PMID 15739154OA-icon.png] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.