NM_000518.5(HBB):c.316C>T (p.Leu106Phe) AND HEMOGLOBIN SOUTH MILWAUKEE

Clinical significance:other (Last evaluated: Dec 12, 2017)

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:
RCV000016738.4

Allele description [Variation Report for NM_000518.5(HBB):c.316C>T (p.Leu106Phe)]

NM_000518.5(HBB):c.316C>T (p.Leu106Phe)

Genes:
LOC110006319:beta-globin gene 3' regulatory 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.316C>T (p.Leu106Phe)
Other names:
L105F
HGVS:
  • NC_000011.10:g.5225726G>A
  • NG_000007.3:g.71890C>T
  • NG_046672.1:g.3661G>A
  • NG_053049.1:g.2047G>A
  • NG_059281.1:g.6346C>T
  • NM_000518.5:c.316C>TMANE SELECT
  • NP_000509.1:p.Leu106Phe
  • LRG_1232t1:c.316C>T
  • LRG_1232:g.6346C>T
  • LRG_1232p1:p.Leu106Phe
  • NC_000011.9:g.5246956G>A
  • NM_000518.4:c.316C>T
Protein change:
L106F; LEU105PHE
Links:
OMIM: 141900.0391; dbSNP: rs34022507
NCBI 1000 Genomes Browser:
rs34022507
Molecular consequence:
  • NM_000518.5:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN SOUTH MILWAUKEE
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037008OMIMno assertion criteria providedother
(Dec 12, 2017)
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

Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity.

Honig GR, Vida LN, Latorraca R, Divgi AB.

Am J Hematol. 1990 Jul;34(3):199-203.

PubMed [citation]
PMID:
2363414

Details of each submission

From OMIM, SCV000037008.4

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

Description

In 4 generations of a family of English ancestry, Honig et al. (1990) found 15 persons with erythrocytosis. Elevated hemoglobin levels were accompanied by leftward-shifted whole blood oxygen equilibrium curves. Phlebotomies for relief of symptoms attributable to erythrocytosis had been necessary in 5 of the affected family members. In the affected individuals, 43% of the beta chains contained a leucine-to-phenylalanine substitution at position 105. Oxygen equilibrium curves demonstrated normal Bohr effect but decreased cooperativity.

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

Last Updated: Sep 29, 2021

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