IthaID: 1556

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	-200 +C	HGVS Name:	HBG2:c.-253_254insC
Hb Name:	N/A	Protein Info:	N/A

Also known as: Tunisian non-deletional HPFH

External Links

HbVar

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	42635
Size:	1 bp
Located at:	Gγ
Specific Location:	Promoter 0

Phenotype

Hemoglobinopathy Group:	HPFH
Hemoglobinopathy Subgroup:	HPFH
Allele Phenotype:	HPFH
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	Promoter (Transcription)
Ethnic Origin:	Tunisian
Inheritance:	Recessive
DNA Sequence Determined:	No
Detection Methods:	Direct DNA sequencing

Sequence Viewer

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Publications / Origin

Pissard S, M'rad A, Beuzard Y, Roméo PH, A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma., British journal of haematology, 95(1), 67-72, 1996 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (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 17:28:32	The IthaGenes Curation Team	Reviewed.

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