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

Clinical significance:Pathogenic (Last evaluated: Nov 25, 2019)

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:
RCV001078371.2

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:
beta Thalassemia (BTHAL)
Synonyms:
Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:
MedGen: C0005283; Orphanet: 848; OMIM: 613985

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001244569The ITHANET community portal, The Cyprus Institute of Neurology and Geneticsno assertion criteria providedPathogenic
(Nov 25, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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 The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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