IthaID: 3231

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	CD 7 (-3bp): (-GAG)	HGVS Name:	HBD:c.22_24delGAG
Hb Name:	N/A	Protein Info:	N/A

External Links

No available links

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	63204
Size:	3 bp
Located at:	δ
Specific Location:	Exon 1

Phenotype

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

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	Insertion/Deletion of codons (Protein Structure)
Ethnic Origin:	Chinese Han
Inheritance:	Recessive
DNA Sequence Determined:	Yes
Detection Methods:	Direct DNA sequencing

Sequence Viewer

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Publications / Origin

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 PubMed

Created on 2017-07-11 15:48:01, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-07-11 15:48:01	The IthaGenes Curation Team	Created

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