DBASS5 - All Splices : DBASS

Phenotype	Gene	Mutation	Distance between Authentic and Aberrant 5' Splice Site (nt)	In Terminal Exon?	Controls
early childhood Leigh syndrome	ECHS1	c.88+5G>A	+11	No	View Details
11beta-hydroxylase deficiency	CYP11B1	E4+204G>A	-46	No	View Details
17alpha-hydroxylase deficiency	CYP17A1	IVS+2T>C	+351	No	View Details
3-methylcrotonyl-CoA carboxylase deficiency	MCCB	E14+93A>G	-65	No	View Details
3-methylcrotonyl-CoA carboxylase deficiency	MCCB	E11+55G>A	+922	No	View Details
a-thalassemia	HBA2	c.94A>C	-49	No	View Details
a-thalassemia	HBA2	c.95+1G>A	-49	No	View Details
Aberrant HLA class I molecule	HLA-A*110X	IVS5+17G>A	+18	No	View Details
acetyl-defective K120	TP53	c.359A>G	-16	No	View Details
Acute intermittent porphyria	HMBS	E10+114G>T	-9	No	View Details
Acute intermittent porphyria	HMBS	IVS1+1G>A	+67	No	View Details
Acute intermittent porphyria	HMBS	IVS1+5G>C	+67	No	View Details
Acute intermittent porphyria	HMBS	IVS1+2T>A	+67	No	View Details
Acute intermittent porphyria	HMBS	IVS1+3G>T	+67	No	View Details
Acute intermittent porphyria	HMBS	IVS7+2T>C	+15	No	View Details
Acute lymphoblastic leukemia	IGHG2	IVS1+4A>G	-16	No	View Details
Adenosine deaminase deficiency	ADA	IVS10+1G>A	+4	No	View Details
Afibrinogenemia	FGB	IVS7+1G>T	-24	No	View Details
Afibrinogenemia	FGB	IVS7+1G>T	-40	No	View Details
Afibrinogenemia	FGB	IVS7+1G>T	-106	No	View Details

Page 1 of 35

[First Page] [Previous Page] [Next Page] [Last Page]

University of Southampton - Faculty of Medicine - dbass