IthaID: 2369


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 115 -GCC [-Ala] HGVS Name: HBA2:c.346_348delGCC
Hb Name: Hb Towson Protein Info: α2 115(GH3) Ala->0

Context nucleotide sequence:
GGTGACCCTGGCCGCCCACCTCCCC [-/GCC] GAGTTCACCCCTGCGGTGCACGCCT (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34380
Size: 3 bp
Located at: α2
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: Caucasian, Northern European
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2014-05-23 18:28:37, Last reviewed on (Show full history)

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