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Mutation Direct

Effortless mutation search and display tool

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Gene: FAM98C & Disease: Short Rib-Polydactyly Syndrome, Saldino-Noonan Type, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
266079	FAM98C	c.844C>T	p.Arg282Ter (p.R282X)	NM_174905.4 M	SNV	LP	4 +	1
266079	FAM98C	c.672+1368C>T	--	NM_001351675.1	SNV	LP	4 +	1

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