NM_000518.4(HBB):c.383A>G (p.Gln128Arg) AND HEMOGLOBIN DIEPPE

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:
RCV000016802.3

Allele description [Variation Report for NM_000518.4(HBB):c.383A>G (p.Gln128Arg)]

NM_000518.4(HBB):c.383A>G (p.Gln128Arg)

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_000518.4(HBB):c.383A>G (p.Gln128Arg)
Other names:
Q127R; CD 127 CAG>CGG [Gln>Arg]
HGVS:
  • NC_000011.10:g.5225659T>C
  • NG_000007.3:g.71957A>G
  • NG_046672.1:g.3594T>C
  • NG_053049.1:g.1980T>C
  • NG_059281.1:g.6413A>G
  • NM_000518.5:c.383A>GMANE SELECT
  • NP_000509.1:p.Gln128Arg
  • LRG_1232t1:c.383A>G
  • LRG_1232:g.6413A>G
  • LRG_1232p1:p.Gln128Arg
  • NC_000011.9:g.5246889T>C
Protein change:
Q128R; GLN127ARG
Links:
HBVAR: 524; OMIM: 141900.0448; dbSNP: rs33910569
NCBI 1000 Genomes Browser:
rs33910569
Molecular consequence:
  • NM_000518.5:c.383A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN DIEPPE
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037072OMIMno 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

Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M.

Ann Hematol. 1992 Oct;65(4):188-92.

PubMed [citation]
PMID:
1420507

Details of each submission

From OMIM, SCV000037072.4

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

Description

Girodon et al. (1992) reported Hb Dieppe in a 31-year-old French female with chronic anemia. DNA sequencing revealed a missense mutation (GAG-to-CGG) at position 127 of the beta-globin gene, causing a glutamine-to-arginine transition. The hemoglobin variant is highly unstable; the introduction of a positively charged hydrophilic residue at position 127 disrupts the tight contacts between the alpha and beta subunits.

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

Last Updated: Sep 29, 2021

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