"Elsea Laboratory, Baylor College of Medicine"[submitter] AND "DDC-AS1 - 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 973440	NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)	DDC, DDC-AS1 (G96R)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 973441	NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)	DDC, DDC-AS1 (P87L)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic