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Mutation Direct

Effortless mutation search and display tool

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Gene: GJA8 & Disease: Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
217323	GJA8	c.658A>G	p.Asn220Asp (p.N220D)	NM_005267.5 M	SNV	LB	3 +	3
931889	GJA8	c.1033G>A	p.Glu345Lys (p.E345K)	NM_005267.5 M	SNV	VUS	1 +	0

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