IthaID: 1402

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	N/A	HGVS Name:	NG_000007.3:g.64557_71923dup
Hb Name:	Hb P-Congo	Protein Info:	βδ hybrid (β through 22; δ from 116)

Also known as: Hb Anti-Lepore P-Congo

Comments: Anti-Lepore βδ hybrid. Crossover between codon 22 (β) and codon 116 (δ)

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	δ-chain variant
Allele Phenotype:	δβ fusion
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	64557
Size:	7.366 kb
Fusion involves:	δ, β

Other details

Type of Mutation:	Fusion
Ethnic Origin:	Congolese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Lehmann H, Charlesworth D, Observations on haemoglobin P (Congo type)., The Biochemical journal, 119(5), 43P, 1970

Created on 2010-06-16 16:13:17, Last reviewed on 2021-11-23 12:57:16 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2015-12-07 15:11:33	The IthaGenes Curation Team	Reviewed.
4	2015-12-07 15:37:44	The IthaGenes Curation Team	Reviewed. Mutation type updated
5	2015-12-07 16:26:51	The IthaGenes Curation Team	Reviewed.
6	2021-11-23 12:57:16	The IthaGenes Curation Team	Reviewed. Type of variant corrected.

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