IthaID: 3850

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 3 CTG>TTG [Leu>Leu] HGVS Name: HBB:c.10C>T

Context nucleotide sequence:

Also known as:

Comments: Found in a newborn associated with Hb Constant Spring [IthaID: 418], presented with Hb 13.5 g/dL, RBC 4.09×10^12/L, MCV 106.4 fL and MCH 33 pg. Capillary electrophoresis shown the presence of Hb Bart’s 1.3% and HbA 24.7%, HbF 73.5%, HbA2 0.3% and Hb CS 0.2%.

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: 70604
Size: 1 bp
Located at: β
Specific Location: Exon 1

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To the best of our knowledge, this is unpublished data.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, Youqiong2021-09-14First report.
Created on 2021-09-17 12:09:44, Last reviewed on 2021-09-17 13:07:09 (Show full history)

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