IthaID: 3920


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -368 C>A HGVS Name: HBG1:c.-420C>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTAAACTACAGGCCTCACTGGAG [C/A] TAGAGACAAGAAGGTAAAAAACG (Strand: -)

Also known as:

Comments: Found in a case in association with HBG1:c.-272_-275dup [IthaID:3865], presented with Hb 15.6 g/dL, MCV 85.2 fL and MCH 28.1 pg. Haemoglobin electrophoresis shown HbA 85.4%, HbA2 2.5% and HbF 11.6% and a small abnormal peak of 0.5% appears next to Hb A2.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47391
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Zhuang, Qianmei 2022-05-06First report.
Created on 2022-05-09 13:06:24, Last reviewed on (Show full history)

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