IthaID: 3627


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CAP +20 (-C) HGVS Name: HBB:c.-31delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTGCTTACATTTGCTTCTGACACAA [C/-] TGTGTTCACTAGCAACCTCAAA (Strand: -)

Also known as:

Comments: Reported in a heterozygous state in four individuals during routine screening.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70564
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Nadkarni AH, Gorakshakar AC, Sawant PM, Italia KY, Upadhye DS, Gorivale MS, Mehta PR, Hariharan P, Ghosh K, Colah RB, The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center., Int J Lab Hematol, 41(2), 218-226, 2019
Created on 2020-09-16 12:11:19, Last reviewed on (Show full history)

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