IthaID: 3755



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 69 GCC>GCT [Ala>Ala] HGVS Name: HBA1:c.210C>T

Context nucleotide sequence:
AAGGTGGCCGACGCGCTGACCAACGC [C/T] GTGGCGCACGTGGACGACATGCCCAA (Strand: +)

Also known as:

Comments: Found in a 41-year-old male with normal clinical presentation (Hb 11.1 g/dL, RBC 4.25×1012/L, MCV 83.1 fL, MCH 26.1 pg, MCHC 31.4 g/L). Capillary electrophoresis shown normal levels of HbA 97.5 % and HbA2 2.5 %.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37906
Size: 1 bp
Located at: α1
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To the best of our knowledge, this is unpublished data.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!

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-03-22First report.
Created on 2021-03-23 15:38:26, Last reviewed on 2021-03-23 15:42:05 (Show full history)

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