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Mutation Direct

Effortless mutation search and display tool

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Gene: ABCD1 & Disease: Hypoadrenocorticism, Familial, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11310	ABCD1	c.1817C>T	p.Ser606Leu (p.S606L)	NM_000033.4 M	SNV	P	3 +	20
11311	ABCD1	c.1820del	p.Gly607fs (p.G607fs)	NM_000033.4 M	Del	P	2 +	1

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