IthaID: 3290


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3817621 HGVS Name: NG_013087.1:g.4813C>G

Context nucleotide sequence:
AAGCCAAGTCAAATATCAAGGGTTG [C/G/T] GGGGTTCAGGGTTTGAGGGTCCAGG (Strand: +)

Also known as: -251 C>G

Comments: SNP associated with elevated HbF levels in severely affected Thai β0‑thalassemia/HbE patients.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 4813
Size: 1 bp
Located at: KLF1
Specific Location: Promoter

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Khamphikham P, Sripichai O, Munkongdee T, Fucharoen S, Tongsima S, Smith DR, Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease., Int. J. Hematol. , 2017
Created on 2018-01-08 17:24:53, Last reviewed on (Show full history)

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