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To the best of our knowledge, this is unpublished data.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