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Mutation Direct

Effortless mutation search and display tool

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Gene: NDUFA13 & Disease: HCTC, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1693	NDUFA13	c.15G>C	p.Lys5Asn (p.K5N)	NM_015965.7 M	SNV	P	1 +	1
2441769	NDUFA13	c.44dup	p.Tyr16fs (p.Y16fs)	NM_015965.7 M	Dup	LP	2 +	1

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