IthaID: 2191


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 107-111 (-12 bp): (-GCAACGTGCTGG) HGVS Name: HBB:c.323_334del
Hb Name: N/A Protein Info: β 107(G9) - 110(G12) Gly-Asn-Val-Leu->0

Context nucleotide sequence:
TCTTATCTTCCTCCCACAGCTCCTGG [GCAACGTGCTGG/-] TCTGTGTGCTGGCCCATCACTTTGG (Strand: -)

Also known as:

Comments: Published as HBB:c.319_330delCTGGGCAACGTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71897
Size: 12 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2013-09-30 17:12:49, Last reviewed on 2021-05-27 16:07:21 (Show full history)

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