IthaID: 3787

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 97 CAC>CAT [His>His] HGVS Name: HBD:c.294C>T

Context nucleotide sequence:

Also known as:

Comments: Found in a 45-year-old Chinese male in compound heterozygosity with the -77T>C [IthaID:1322] in HBD and CD 17 AAG>TAG [IthaID:77] in HBB. He presented with Hb 12.8 g/dL, RBC 5.64×1012/L, MCV 70.4fL, MCH 22.8 pg and MCHC 32.3 g/L. Capillary electrophoresis shown HbA 92.0%, Hb A2 2.8% and increased HbF 5.2% levels.

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: 63604
Size: 1 bp
Located at: δ
Specific Location: Exon 2

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To the best of our knowledge, this is unpublished data.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, Youqiong2021-04-12First report.
Created on 2021-04-27 16:00:37, Last reviewed on 2021-04-28 10:24:16 (Show full history)

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