IthaID: 3690



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS I-65 (G>A) HGVS Name: HBB:c.92+65G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTTAAGGAGACCAATAGAAACTGGGCATGTGGAGACAGA [G/A] AAGACTCTTGGGTTTCTGATAGGCACTGACTCTCTCTGCC (Strand: -)

Also known as:

Comments: Found in a 16-year-old female presented with near normal hematological indices. A slightly elevated Hb A2 (3.5 %) level found.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70751
Size: 1 bp
Located at: β
Specific Location: Intron 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Iban
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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To the best of our knowledge, this is unpublished data.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
1Mohd Yasin, Norafiza 2020-10-20First report.
Created on 2020-10-27 14:27:03, Last reviewed on (Show full history)

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