NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) AND HEMOGLOBIN I (BURLINGTON)

Clinical significance:other (Last evaluated: Mar 28, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016906.1

Allele description [Variation Report for NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)]

NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)
Other names:
K16E; Hb I-Burlington; Hb I-Philadelphia; Hb I-Skamania; Hb I-Texas
HGVS:
  • NC_000016.10:g.172961A>G
  • NG_000006.1:g.33824A>G
  • NG_046165.1:g.2700A>G
  • NG_059186.1:g.1311A>G
  • NG_059271.1:g.5115A>G
  • NM_000517.6:c.49A>GMANE SELECT
  • NP_000508.1:p.Lys17Glu
  • LRG_1240t1:c.49A>G
  • LRG_1225:g.1311A>G
  • LRG_1240:g.5115A>G
  • LRG_1240p1:p.Lys17Glu
  • NC_000016.9:g.222960A>G
  • NM_000517.4:c.49A>G
Protein change:
K17E; LYS16GLU
Links:
HBVAR: 19; OMIM: 141850.0011; dbSNP: rs281865555
NCBI 1000 Genomes Browser:
rs281865555
Molecular consequence:
  • NM_000517.6:c.49A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN I (BURLINGTON)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037177OMIMno assertion criteria providedother
(Mar 28, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.

Liebhaber SA, Rappaport EF, Cash FE, Ballas SK, Schwartz E, Surrey S.

Science. 1984 Dec 21;226(4681):1449-51.

PubMed [citation]
PMID:
6505702

Details of each submission

From OMIM, SCV000037177.1

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

Description

The hemoglobin I mutation is curious in that it is encoded at both the HBA1 locus (see 141800.0055) and at the HBA2 locus (Liebhaber et al., 1984). This is presumably an example of gene conversion.

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

Last Updated: Jan 25, 2021

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