IthaID: 51

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 2-4 (-9 bp, +31 bp)	HGVS Name:	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT
Hb Name:	N/A	Protein Info:	β 2(NA2) - 4(A1) His-Leu-Thr->0 AND beta 2(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (2)Pro-Glu-Val-Lys-Ser-(7)Ala-COOH
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
AACAGACACCATGGTGC [CATCTGACT/CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT ] CTCCTGAGGAGAAGTCT (Strand: -)

Comments: Found as a compound heterozygote with Hb S in twins of an Algerian family living in Southern France.

External Links

HbVar	dbSNP
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70601
Size:	9 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Algerian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Badens C, Thuret I, Michel G, Krawczak M, Mattei JF, Lena-Russo D, Labie D, Elion J, Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene., Human mutation, 8(1), 89-92, 1996

Created on 2010-06-16 16:13:14, Last reviewed on 2021-05-26 12:06:10 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:14	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2014-04-08 12:07:49	The IthaGenes Curation Team	Reviewed.
4	2015-12-07 12:15:12	The IthaGenes Curation Team	Reviewed. Mutation type updated
5	2019-11-07 11:38:59	The IthaGenes Curation Team	Reviewed. HGVS name corrected.
6	2019-11-07 12:57:47	The IthaGenes Curation Team	Reviewed. Type of mutation changed.
7	2021-05-26 12:05:02	The IthaGenes Curation Team	Reviewed. HGVS name corrected. Size, chromosome and locus location corrected.
8	2021-05-26 12:06:10	The IthaGenes Curation Team	Reviewed. Effect on gene added.

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