IthaID: 3007
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | rs713040 | HGVS Name: | NG_059281.1:g.5059T>C |
Context nucleotide sequence:
CCTCAAACAGACACCATGGTGCA [T>C] CTGACTCCTGAGGAGAAGTCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: NM_000518.5(HBB):c.9T>C
Comments: Neutral polymorphism with a global allele frequency of 0.77 in gnomAD v2.1.1. Found in a heterozygous and homozygous state in healthy individuals from the Odisha State, India. No hematologic or phenotypic data reported [PMID: 24099628].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70603 |
| 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: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014
Created on 2016-08-24 11:14:59,
Last reviewed on 2021-02-24 13:00:59 (Show full history)
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