NM_000518.5(HBB):c.325A>G (p.Asn109Asp) AND HEMOGLOBIN YOSHIZUKA

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:
RCV000016649.4

Allele description [Variation Report for NM_000518.5(HBB):c.325A>G (p.Asn109Asp)]

NM_000518.5(HBB):c.325A>G (p.Asn109Asp)

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.325A>G (p.Asn109Asp)
Other names:
N108D; Hb Yoshizuka
HGVS:
  • NC_000011.10:g.5225717T>C
  • NG_000007.3:g.71899A>G
  • NG_046672.1:g.3652T>C
  • NG_053049.1:g.2038T>C
  • NG_059281.1:g.6355A>G
  • NM_000518.5:c.325A>GMANE SELECT
  • NP_000509.1:p.Asn109Asp
  • LRG_1232t1:c.325A>G
  • LRG_1232:g.6355A>G
  • LRG_1232p1:p.Asn109Asp
  • NC_000011.9:g.5246947T>C
  • NM_000518.4:c.325A>G
Protein change:
N109D; ASN108ASP
Links:
HBVAR: 480; OMIM: 141900.0306; dbSNP: rs33958637
NCBI 1000 Genomes Browser:
rs33958637
Molecular consequence:
  • NM_000518.5:c.325A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN YOSHIZUKA
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036918OMIMno 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

Hemoglobin Yoshizuka (G10(108)beta asparagine--aspartic acid): a new variant with a reduced oxygen affinity from a Japanese family.

Imamura T, Fujita S, Ohta Y, Hanada M, Yanase T.

J Clin Invest. 1969 Dec;48(12):2341-8.

PubMed [citation]
PMID:
5355345
PMCID:
PMC297491

Details of each submission

From OMIM, SCV000036918.4

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

Description

Reduced oxygen affinity like hemoglobin Kansas. See Imamura et al. (1969).

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

Last Updated: Sep 29, 2021

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