IthaID: 3973



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 68 AAC>AAR HGVS Name: NG_000006.1:g.[34099C>R;34247_38050del]
Hb Name: Hb G-Philadelphia Protein Info: N/A

Also known as: -α3.7-Hb G-Philadelphia

Comments: The missense mutation Hb G-Philadelphia [IthaID: 596] was found on a chromosome that carries -α3.7 (type I) [IthaID: 300], in a homozygous case for the -α3.7 deletion. Reported as both an AAC>AAA or AAG change [Asn>Lys].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34099 or 34247
Size: 1 bp or 3.804 kb
Located at: α2, α3.7 hybrid

Other details

Type of Mutation: Combination
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Molchanova TP, Pobedimskaya DD, Ye Z, Huisman TH, Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes., Am. J. Hematol. , 45(4), 345-6, 1994 PubMed

Microattributions

A/AContributor(s)DateComments
1Papasavva, Thessalia2022-09-23First report. AAC>AAA change
Created on 2022-09-23 12:01:53, Last reviewed on 2024-03-08 10:59:25 (Show full history)

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