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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Publications / Origin

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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Papasavva, Thessalia	2022-09-23	First report. AAC>AAA change

Created on 2022-09-23 12:01:53, Last reviewed on 2024-03-08 10:59:25 (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-09-23 12:01:53	The IthaGenes Curation Team	Created
2	2022-09-26 15:03:22	The IthaGenes Curation Team	Reviewed. Synonym added.
3	2022-09-28 11:40:18	The IthaGenes Curation Team	Reviewed. Allele phenotype added.
4	2024-03-06 09:33:54	The IthaGenes Curation Team	Reviewed. HGVS name corrected
5	2024-03-06 10:33:17	The IthaGenes Curation Team	Reviewed. Reference added
6	2024-03-06 10:58:28	The IthaGenes Curation Team	Reviewed.
7	2024-03-06 14:19:21	The IthaGenes Curation Team	Reviewed.
8	2024-03-06 14:20:50	The IthaGenes Curation Team	Reviewed. Location
9	2024-03-06 14:21:26	The IthaGenes Curation Team	Reviewed.
10	2024-03-06 15:01:40	The IthaGenes Curation Team	Reviewed.
11	2024-03-06 15:02:57	The IthaGenes Curation Team	Reviewed.
12	2024-03-08 10:59:25	The IthaGenes Curation Team	Reviewed. Comment added

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