IthaID: 3782


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS I-41 G>T HGVS Name: NM_000558.5(HBA1):c.95+41G>T

Context nucleotide sequence:
CTCCGACCCGGGCTCCTCGCCC [G/T] CCCGGACCCACAGGCCACCCTC (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: 37715
Size: 1 bp
Located at: α1
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To the best of our knowledge, this is unpublished data.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 2021-04-05 12:52:37, Last reviewed on 2024-04-12 12:35:12 (Show full history)

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