NM_000518.5(HBB):c.351T>R (p.His117Gln) AND HEMOGLOBIN HAFNIA

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:
RCV000016368.5

Allele description [Variation Report for NM_000518.5(HBB):c.351T>R (p.His117Gln)]

NM_000518.5(HBB):c.351T>R (p.His117Gln)

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.351T>R (p.His117Gln)
Other names:
H116Q
HGVS:
  • NC_000011.10:g.5225691A>Y
  • NG_046672.1:g.3626A>Y
  • NG_053049.1:g.2012A>Y
  • NG_059281.1:g.6381T>R
  • NM_000518.5:c.351T>RMANE SELECT
  • NP_000509.1:p.His117Gln
  • NP_000509.1:p.His117Gln
  • LRG_1232t1:c.351T>R
  • LRG_1232:g.6381T>R
  • LRG_1232p1:p.His117Gln
  • NC_000011.9:g.5246921A>Y
  • NM_000518.4:c.351T>R
Protein change:
H117Q; HIS116GLN
Links:
OMIM: 141900.0097; dbSNP: rs35209776
NCBI 1000 Genomes Browser:
rs35209776
Molecular consequence:
  • NM_000518.5:c.351T>R - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN HAFNIA
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036636OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (2)
[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

Hb Volga [B27 (B9) AlA----AsP], a possible de novo mutation in a Danish person.

Blanke S, Johnsen A, Wimberley PD.

Hemoglobin. 1989;13(5):489-91. No abstract available.

PubMed [citation]
PMID:
2599883

Hb Ube-2 [alpha68(E17)Asn-Asp] and Hb Hafnia [beta116(G18)His-->Gln] observed during neonatal screening in Brussels.

Cotton F, Hansen V, Lin C, Parma J, Cochaux P, Damis E, Vertongen F, Gulbis B.

Hemoglobin. 2000 Feb;24(1):65-9. No abstract available.

PubMed [citation]
PMID:
10722118

Details of each submission

From OMIM, SCV000036636.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

By isoelectric focusing (IEF) of red cell hemolysates, this hemoglobin variant simulates glycated hemoglobin (HbA1c). This is the first mutation discovered at beta 116. It was first found in a 6-year-old boy with diabetes mellitus; 5 nondiabetic members of the family had the same hemoglobin variant (Blanke et al., 1988). (Hafnia is Latin for Copenhagen.)

During neonatal screening in Belgium, Cotton et al. (2000) found a newborn of Brazilian origin with Hb Hafnia. Both he and his mother were heterozygous for a CAT-to-CAA transversion at codon 116. Both were clinically and hematologically normal.

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

Last Updated: Oct 24, 2021

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