IthaID: 2559



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 357 (CAC>CCC) HGVS Name: NG_013087.1:g.7300C>G

Context nucleotide sequence:
TCGCGCTCTGACCACCTGGCCTTGC [A/C] CATGAAGCGCCACCTTTGAGCCCTG (Strand: -)

Comments: Protein change: H357P. Associated with elevated levels of HbF.

External Links

No available links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7300
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Waye JS, Eng B, Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations., Int J Lab Hematol , 37(0), 78-84, 2015 PubMed
Created on 2015-07-09 15:03:31, Last reviewed on (Show full history)

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