IthaID: 3250


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Init CD ATG>A-G HGVS Name: HBA1:c.2delT
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Discovered by target next-generation sequencing with 0.000045 of frequency in 22260 samples (South China origin).

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37581
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: N/A
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Xu, Xiangmin2017-08-09First report.
Created on 2017-08-21 13:00:08, Last reviewed on (Show full history)

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