"Ambry Genetics"[submitter] AND "LOC126807060"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2317212	NM_001079524.2(PAICS):c.1120T>A (p.Cys374Ser)	PAICS, LOC126807060 (C735S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512870	NM_001079524.2(PAICS):c.1208G>A (p.Arg403Gln)	LOC126807060, PAICS (R410Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance