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

HbVar

ClinVar

Phenotype

Allele Phenotype:	Neutral
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

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)

A/A	Date	Curator(s)	Comments
1	2019-04-04 16:52:21	The IthaGenes Curation Team	Created
2	2020-09-28 16:55:16	The IthaGenes Curation Team	Reviewed. Inheritance corrected.

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