IthaID: 4074

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: -352 A>G HGVS Name: HBG1:c.-404A>G

Context nucleotide sequence:

Also known as:

Comments: A potentially neutral variation detected in the heterozygous state in an individual with elevated HbF (Hb F 4.3%) together with -365 G>C [IthaID: 3887] and Aγ(+25 G>A) [ithaID=2945] in HBG1 and -158 C>T [ithaID=2127] in HBG2. Phenotypic information: Hb 128g/L, MCV 99fL, MCH 32.1pg, Hb A 93%, Hb A2 2.7%, Hb F 4.3%.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 47407
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 Han
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To the best of our knowledge, this is unpublished data.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!


1Zhuang, Qianmei 2023-09-25First report.
Created on 2023-11-01 16:42:57, Last reviewed on 2023-11-01 16:53:19 (Show full history)

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