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

Context nucleotide sequence:
GTCCACTCCTGATGCTGTTATGGG [C/T] AACCCTAAGGTGAAGGCTCATGGCA (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: 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

  1. 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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