IthaID: 176

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 71 (+T)	HGVS Name:	HBB:c.216dupT
Hb Name:	N/A	Protein Info:	N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
TGGCAAGAAAGTGCTCGGTGCCTTT [-/T] AGTGATGGCCTGGCTCACCTGGACA (Strand: -)

Comments: Found in two members of a family; in a heterozygous state in the father and in combination with HBB:c.316-197C>T in his son. The introduction of a nt T between codons 71 and 72 (TTTAGT>TTTTAGT) results in a frameshift with a nonsense codon at codon 72 (TGA) and premature termination of translation.

External Links

HbVar	dbSNP
OMIM	LOVD
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70940
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Frequencies

Publications / Origin

Chan V, Chan TK, Todd D, A new codon 71 (+T) mutant resulting in beta zero thalassemia., Blood, 74(6), 2304, 1989

Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 10:15:52 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2014-06-04 12:37:34	The IthaGenes Curation Team	Reviewed. ClinVar link added.
4	2019-11-12 10:15:52	The IthaGenes Curation Team	Reviewed. Common name and HGVS name corrected. Comment added.

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