IthaID: 3771



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 143 CAC>CAT [His>His] HGVS Name: HBB:c.432C>T

Context nucleotide sequence:
CTGGTGTGGCTAATGCCCTGGCCCA [C/T] AAGTATCACTAAGCTCGCTTTCTTG (Strand: -)

Also known as:

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

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72006
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Carlice-Dos-Reis T, Viana J, Moreira FC, Cardoso GL, Guerreiro J, Santos S, Ribeiro-Dos-Santos Â, Investigation of mutations in the HBB gene using the 1,000 genomes database., PLoS One, 12(4), e0174637, 2017 PubMed
Created on 2021-04-02 18:52:01, Last reviewed on 2021-04-02 18:53:12 (Show full history)

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