Individual ID: 18676167.02

Individual ID	18676167.02
Pubmed ID	18676167
Whose mosaic mutation	Male Patient
Phenotypic Category	3
Disease	Pyruvate carboxylase deficiency(view all the variants in this disease)
OMIM ID	266150

Variants

Found 2 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
359	5091	PC	11	66619351	66619351	Pyruvate carboxylase deficiency	RTPCR
360	5091	PC	11	66617869	66617869	Pyruvate carboxylase deficiency	RTPCR