IthaID: 3070

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	αααα282	HGVS Name:	NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]

Also known as: αααα222

Comments: The duplication spans a region starting from the telomere (position 60001 bp) to a downstream breakpoint localized to position 282,199 bp (GRCh37.p13). The duplication segment is inserted between 94,054-94,055 bp (GRCh37.p13). According to the telomere starting site, the duplication spans a smaller region of 222 kb including entire α-globin locus. Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with normal haemoglobin levels. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	222.199 kb
Located at:	HS40, ζ, α2, α1, NPRL3

Other details

Type of Mutation:	Duplication
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016

Created on 2016-09-06 17:40:11, Last reviewed on 2021-11-25 13:20:35 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-09-06 17:40:11	The IthaGenes Curation Team	Created
2	2016-09-07 10:47:51	The IthaGenes Curation Team	Reviewed. Gene information corrected.
3	2021-06-25 10:39:47	The IthaGenes Curation Team	Reviewed. HGVS name and chromosome location added. Comment and size corrected.
4	2021-11-25 13:19:37	The IthaGenes Curation Team	Reviewed. Functionality corrected.
5	2021-11-25 13:20:35	The IthaGenes Curation Team	Reviewed.

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