IthaID: 3887

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: -365 G>C HGVS Name: HBG1:c.-417G>C

Context nucleotide sequence:

Also known as:

Comments: Found in a 63-year-old female in association with Hb G-San José [IthaID:830] and Gγ -158 C>T [IthaID:2127], presented with Hb 11.1 g/dL, RBC 4.26×1012/L, MCV 82.5 fL and MCH 26.1 pg. Capillary electrophoresis shown HbA 73%, HbA2 3.4% and HbF+Hb G-San José 23.6%.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 47394
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2022-01-05First report.
Created on 2022-01-20 11:23:39, Last reviewed on (Show full history)

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