IthaID: 828

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	CD 6/7(-GAG)	HGVS Name:	HBB:c.22_24delGAG
Hb Name:	Hb Leiden	Protein Info:	β 6(A3) Glu->0 OR β 7(A4) Glu->0

Context nucleotide sequence:
CACCATGGTGCATCTGACTCCTGAG [-/GAG] AAGTCTGCCGTTACTGCCCTGTGGG (Strand: -)

External Links

HbVar	dbSNP
OMIM

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70616
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	Decreased Oxygen Affinity
Associated Phenotypes:	N/A

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	American \| Chinese \| Mexican \| Netherlands \| South African \| Yugoslavian
Inheritance:	Recessive
DNA Sequence Determined:	No
Detection Methods:	MLPA

Sequence Viewer

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Publications / Origin

De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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