IthaID: 3732


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Variant of Uncertain Significance
Common Name: CD 140 TAC>TAT [Tyr>Tyr] HGVS Name: HBA2:c.423C>T

Context nucleotide sequence:
TGAGCACCGTGCTGACCTCCAAATA [C/T] CGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34457
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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To the best of our knowledge, this is unpublished data.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!

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-02-12 12:43:04, Last reviewed on (Show full history)

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