IthaID: 3229

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 116 CGC>GGC [Arg>Gly] HGVS Name: HBD:c.349C>G
Hb Name: N/A Protein Info: N/A

Protein sequence:

Also known as:

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 64557
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese Han
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Zhong LY, Xie YJ, Chen PS, Feng YW, Liu M, Huang B, He XH, Gan X, [Analysis of haematological phenotype and mutation spectrum of δ-globin gene from Guangdong area in Chinese Han prenatal population]., Zhonghua Yi Xue Za Zhi , 97(20), 1580-1583, 2017
Created on 2017-07-11 15:15:11, Last reviewed on 2017-07-11 15:32:18 (Show full history)

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