IthaID: 4076


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Cap +1570 (T>G) HGVS Name: HBB:c.*96T>G
Hb Name: N/A Protein Info: beta nt 1570 T>G

Context nucleotide sequence:
GGGATATTATGAAGGGCCTTGAGCATC [T>G] GGATTCTGCCTAATAAAAAACATTTATT (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72114
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
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To the best of our knowledge, this is unpublished data.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!

Created on 2023-11-13 12:08:20, Last reviewed on (Show full history)

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