"SIB Swiss Institute of Bioinformatics"[submitter] AND "COX6A2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638272	NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)	COX6A2 (C43R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 18	GLikely pathogenic
Select item 638271	NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg)	COX6A2 (S39R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 18	GLikely pathogenic