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NM_000518.5(HBB):c.60C>A (p.Asn20Lys) AND HEMOGLOBIN D (OULED RABAH)

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
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:
RCV000016321.13

Allele description [Variation Report for NM_000518.5(HBB):c.60C>A (p.Asn20Lys)]

NM_000518.5(HBB):c.60C>A (p.Asn20Lys)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.60C>A (p.Asn20Lys)
Other names:
N19K
HGVS:
  • NC_000011.10:g.5226962G>T
  • NG_000007.3:g.70654C>A
  • NG_042296.1:g.493G>T
  • NG_046672.1:g.4897G>T
  • NG_059281.1:g.5110C>A
  • NM_000518.5:c.60C>AMANE SELECT
  • NP_000509.1:p.Asn20Lys
  • LRG_1232t1:c.60C>A
  • LRG_1232:g.5110C>A
  • LRG_1232p1:p.Asn20Lys
  • NC_000011.9:g.5248192G>T
  • P68871:p.Asn20Lys
Protein change:
N20K; ASN19LYS
Links:
UniProtKB: P68871#VAR_002887; OMIM: 141900.0064; dbSNP: rs63750840
NCBI 1000 Genomes Browser:
rs63750840
Molecular consequence:
  • NM_000518.5:c.60C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN D (OULED RABAH)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036589OMIM
no assertion criteria provided
other
(Dec 12, 2017)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln.

Elion J, Belkhodja O, Wajcman H, Labie D.

Biochim Biophys Acta. 1973 Jun 15;310(2):360-4. No abstract available.

PubMed [citation]
PMID:
4719147

Hb D-Ouled Rabah [beta 19(B1)Asn----Lys]. A rare beta chain variant found in a Chinese family.

Ren Y, Chen SS, Liang CC, Zhang MJ, Huang MX, Zhang GL, Zen XS.

Hemoglobin. 1988;12(1):77-9. No abstract available.

PubMed [citation]
PMID:
3384702
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036589.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See Elion et al. (1973) and Ren et al. (1988).

Among 598 children from the Berber population of the Mzab, Merghoub et al. (1997) found HbC and Hb D (Ouled Rabah) in the same gene frequency (0.015). Hb D(Ouled Rabah) is considered a private marker of the Kel Kummer Tuaregs. Haplotype analysis suggested a single origin of the Hb D mutation. Genetic markers calculated from blood group data clustered Mozabites and Tuaregs with the other Berber-speaking groups, Arabic-speaking populations being more distant. However, they found no specific relationship between the Mozabites and Kel Kummers. Tuaregs in general exhibit features that tend to differentiate them from other Berber-speaking groups. Merghoub et al. (1997) concluded that Hb D(Ouled Rabah) may be specific for Berber-speaking populations. Merghoub et al. (1997) noted that the origin of the Berber people is not clearly established. North Africa was peopled around the sixteenth millennium B.C.; transition to agriculture occurred around 9500 to 7000 B.C., spreading from the Near East to Egypt. The Arab invasion in the seventh and eighth centuries brought Islamization and dispersal of the Berber culture. Present-day populations of North Africa are mostly Arabic-speaking, whatever their remote origin. Berbers, however, with their languages and customs, still live in small niches of northern Morocco and Algeria, and in some northern oases of the Sahara, including those of the Mzab (Algeria). The Tuaregs also speak Berber languages. They inhabit the south of the Sahara and have been involved for centuries in trans-Saharan trade. Tuaregs have their own culture that probably diverged from the Berber world through isolation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024