IthaID: 3365

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS II-119 (-G) (+CTCGGCCC) HGVS Name: HBA2:c.301-24delGinsCTCGGCCC

Also known as:

Comments: Found in a heterozygous state.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34311
Size: 8 bp
Located at: α2
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Chinese 
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pang W, Weng X, Ye X, Long J, Wu S, Sun L, Wei C, Chen M, Tang W, Qiu S, Zhang C, Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi., Gene, 583(1), 24-8, 2016 PubMed
Created on 2019-04-04 16:52:21, Last reviewed on 2020-09-28 16:55:16 (Show full history)

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