"Institute of Human Genetics, Cologne University"[submitter] AND "PRX" - 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 549686	NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)	PRX (E1235*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GPathogenic
Select item 653288	NM_181882.3(PRX):c.627del (p.Ala210fs)	PRX (A210fs)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic