Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (6)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
SHOX	312865	249700	Xpter-p22.32	1-BP INS, 723C	0009	LANGER MESOMELIC DYSPLASIA	1
SHOX	312865	249700	Xpter-p22.32	ARG153CYS		LANGER MESOMELIC DYSPLASIA	1
SHOX	312865	249700	Xpter-p22.32	DEL	0003	LANGER MESOMELIC DYSPLASIA	5
SHOX	312865	249700	Xpter-p22.32	del DXYS233		LANGER MESOMELIC DYSPLASIA	1
SHOX	312865	249700	Xpter-p22.32	ins350AG		LANGER MESOMELIC DYSPLASIA	1
SHOX	312865	249700	Xpter-p22.32	VAL163PHE		LANGER MESOMELIC DYSPLASIA	1

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