IthaID: 2084


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 51 (CTC>CGC) HGVS Name: NG_013087.1:g.6126T>G

Context nucleotide sequence:
CCTCCTGACCCCACGGAGCCGCCCC [T/G] CCACGTGAAGTCTGAGGACCAGCCC (Strand: -)

Also known as:

Comments: Protein change: L51R

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: 6126
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S, Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults., Haematologica , 97(3), 340-3, 2012
Created on 2013-06-28 13:11:17, Last reviewed on 2014-03-20 10:38:32 (Show full history)

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