IthaID: 3960


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 29 GGC>GGT [Gly>Gly] HGVS Name: HBD:c.90C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCAGTTGGTGGTGAGGCCCTGGG [C/T] GCAGTTGGTGGTGAGGCCCTGGG (Strand: -)

Also known as:

Comments: Although the C>T variant produces a synonymous amino acid, also creates a new GT 5’ donor splice site at position c.89_90 of codon 24, which will affect the normal authentic splice site at position c.92+1.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63272
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Arabian
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To the best of our knowledge, this is unpublished data.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 2022-08-11 15:38:40, Last reviewed on (Show full history)

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