IthaGenes

Loading... Please wait!

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus
1549	Dutch IV	N/A	NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del	ε, βLCR, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia	NG_000007.3
3606	177 Kb deletion	N/A	NC_000011.10:g.5241050_5418009del	OR51B2, OR51M1, OR51B6, OR51B5, pseudo β, Gγ, Aγ, ε, βLCR	Causative	εγδβ-thalassaemia	NG_000007.3
1550	Dutch V	N/A	NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del	OR51B4, OR51M1, βLCR, OR51B5, OR51B6, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3
2834	rs5024042	N/A	NC_000011.10:g.5352332C>A	OR51B6	Modifier	Hb F levels	N/A
2833	rs5006883	N/A	NC_000011.10:g.5352081T>C	OR51B6	Modifier	Hb F levels	N/A
2832	rs7483122	N/A	NC_000011.10:g.5351776T>C	OR51B6	Modifier	Hb F levels	N/A
2831	rs4910756	N/A	NC_000011.10:g.5351626A>G	OR51B6	Modifier	Hb F levels	N/A
2830	rs4910755	N/A	NC_000011.10:g.5351521A>C	OR51B6	Modifier	Hb F levels	N/A
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Acute chest syndrome, Hb F levels	N/A

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Quick filtering