IthaID: 2427

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 41 TTC>CTC [Phe>Leu] HGVS Name: HBG2:c.124T>C
Hb Name: Hb F-Avellino Protein Info: Gγ 41(C7) Phe>Leu

Also known as:

Comments: Detected in a healthy newborn with no clinical manifestation. Slightly unstable with elevated HbF.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 43133
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pirastru M, Mereu P, Trova S, Masala B, Manca L, Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn., Hemoglobin , 40(1), 61-3, 2016 PubMed
Created on 2014-05-29 16:42:01, Last reviewed on 2016-08-26 11:14:53 (Show full history)

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