IthaID: 2278


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 302 (+4bp): (+GCGC) HGVS Name: NG_013087.1:g.6877_6878insGCGC

Context nucleotide sequence:
CTCCCACCTGAAGGCGCATCTGCGC [-/GCGC] ACGCACACAGGTGAGGGGGCGGGGC (Strand: -)

Also known as:

Comments: Associated with increase levels of HbF. Protein change: T302AfsX52

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6877
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
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

Publications / Origin

  1. Wang T, He Y, Zhou JY, Xie XM, Li J, Li R, Liao C, Li DZ, KLF1 Gene Mutations in Chinese Adults with Increased Fetal Hemoglobin., Hemoglobin , 37(5), 501-6, 2013
Created on 2013-10-09 09:58:01, Last reviewed on 2014-03-20 11:20:18 (Show full history)

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