IthaID: 3780
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 56 GGC>GGT [Gly>Gly] | HGVS Name: | HBB:c.171C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTCCACTCCTGATGCTGTTATGGG [C/T] AACCCTAAGGTGAAGGCTCATGGCA (Strand: -)
Comments: Variation is reported in ClinVar as Likely benign with a 2-star review status (multiple submitters, no conflict).
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70895 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Taiwanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Shih HC, Er TK, Chang TJ, Chang YS, Liu TC, Chang JG, Rapid identification of HBB gene mutations by high-resolution melting analysis., Clin Biochem, 42(0), 1667-76, 2009
Created on 2021-04-05 09:48:33,
Last reviewed on (Show full history)
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