NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) AND HEMOGLOBIN O (OLIVIERE)

This record was updated by the submitter. Please see the current version.

Germline classification:: other (1 submission)
Last evaluated:: Jul 20, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000017130.2

Allele description

NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)

Other names:

Hb Buginese-X; Hb Oliviere

HGVS:

NC_000016.10:g.177331G>A
NG_000006.1:g.38194G>A
NM_000558.4:c.349G>A
NP_000549.1:p.Glu117Lys
NC_000016.9:g.227330G>A
NM_000558.3:c.349G>A

Protein change:

E116K; GLU116LYS

Links:

HBVAR: 180; OMIM: 141800.0110; dbSNP: rs63749882

NCBI 1000 Genomes Browser:

rs63749882

Allele Frequency:

0.00001(A)

Molecular consequence:

NM_000558.4:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN O (OLIVIERE)
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037402	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 3771577, 13968953, 4986187, 11558897

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037402

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis.

Liebhaber SA, Cash FE, Ballas SK.

J Biol Chem. 1986 Nov 15;261(32):15327-33.

PubMed [citation]

PMID:: 3771577

Chemical heterogeneity of haemoglobin O.

BAGLIONI C, LEHMANN H.

Nature. 1962 Oct 20;196:229-32. No abstract available.

PubMed [citation]

PMID:: 13968953

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000037402.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

See Lie-Injo and Sadono (1958), Baglioni and Lehmann (1962), and Sansone et al. (1970).

Daud et al. (2001) investigated the occurrence of hemoglobin O (Indonesia) in related ethnic populations of the Indonesian archipelago. Nineteen individuals heterozygous for this variant were identified in 4 ethnic populations. The level of Hb O (Indonesia) in 17 of the individuals was 11.6 +/- 1.0%, significantly lower than the expected 17 to 22%, indicating the instability of Hb O (Indonesia).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2018

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