IthaID: 2517



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 328 CGC>-GC HGVS Name: NG_013087.1:g.7212delC

Context nucleotide sequence:
ATTCGCGCGCTCGGACGAGCTGACC [C/-] GCCACTACCGGAAACACACGGGGCA (Strand: -)

Also known as:

Comments: Protein change: R328Afs. Found in individuals with borderline HbA2.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Anaemia [HP:0001903]

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7212
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Lou JW, Li DZ, Zhang Y, He Y, Sun MN, Ye WL, Liu YH, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals., Blood Cells Mol. Dis. , 2014 PubMed
Created on 2014-06-06 08:34:20, Last reviewed on 2016-09-14 10:23:49 (Show full history)

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