SWISSVAR

1 protein found in SwissVar (5 variants)

with gene/protein name P49918

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P49918 CDN1C_HUMAN beckwith-wiedemann syndrome
P49918 CDN1C_HUMAN intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies p.Asp274Asn
p.Phe276Ser
p.Phe276Val
p.Lys278Glu
p.Arg279Pro





P49918 CDN1C_HUMAN tumor formation