IthaID: 3437



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 2 CAT>-AT HGVS Name: HBB:c.7delC
Hb Name: Hb Bundelkhand Protein Info: N/A

Context nucleotide sequence:
CACTAGCAACCTCAAACAGACACCATGGTG [C>T] ATCTGACTCCTGAGGAGAAGTCTGCCGTTA (Strand: -)

Also known as:

Comments: Reported in a heterozygous state with mild anaemia, as well as in co-inheritance with a β+ mutation with severe anaemia. This deletion is predicted to result in the shifting of reading frame and hence premature termination of the polypeptide after codon 3. The abnormal mRNA is presumably degraded before traduction by the NMD mechanism.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70601
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-06-24 15:26:39, Last reviewed on (Show full history)

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