"Ambry Genetics"[submitter] AND "LOC130063928"[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 2347628	NM_020959.3(ANO8):c.3685A>G (p.Ser1229Gly)	ANO8, LOC130063928 (S1229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225214	NM_020959.3(ANO8):c.3676T>C (p.Cys1226Arg)	ANO8, LOC130063928 (C1226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance