IthaID: 3769


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS I-36 C>T HGVS Name: HBA2:c.95+36C>T

Context nucleotide sequence:
CCCTCCCCTGCTCCGACCCGGGCTCCT [C/T] GCCCGCCCGGACCCACAGGCCACCCTC (Strand: +)

Also known as:

Comments: Variation is reported in ClinVar as Likely Benign with a 2-star review status (multiple submitters, no conflict).

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: 33906
Size: 1 bp
Located at: α2
Specific Location: Intron 1

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To the best of our knowledge, this is unpublished data.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 2021-04-02 14:13:10, Last reviewed on 2021-04-03 10:38:34 (Show full history)

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