IthaID: 3672

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-73 A>C	HGVS Name:	HBB:c.-123A>C
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
CACCCTGTGGAGCCACACCCTAGGGTTGGCCA [A/C] TCTACTCCCAGGAGCAGGGAGGGCAGGAGCCA

Also known as:

Comments: Found in three Malay females with normal hematological presentation and only slightly increased Hb A2 levels (3.8%). The novel variant found in combination with the rightward –α3.7 deletion in one of the females.

External Links

No available links

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70472
Size:	1 bp
Located at:	β
Specific Location:	Promoter

Other details

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/A	Contributor(s)	Date	Comments
1	Mohd Yasin, Norafiza	2020-10-20	First report.

Created on 2020-10-23 10:46:27, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-10-23 10:46:27	The IthaGenes Curation Team	Created

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