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NM_000518.4(HBB):c.26A>T (p.Lys9Met) AND HEMOGLOBIN NAKANO

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016814.3

Allele description [Variation Report for NM_000518.4(HBB):c.26A>T (p.Lys9Met)]

NM_000518.4(HBB):c.26A>T (p.Lys9Met)

Genes:
LOC106099062:HBB recombination 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.26A>T (p.Lys9Met)
Other names:
K8M
HGVS:
  • NC_000011.10:g.5226996T>A
  • NG_000007.3:g.70620A>T
  • NG_042296.1:g.527T>A
  • NG_046672.1:g.4931T>A
  • NG_059281.1:g.5076A>T
  • NM_000518.5:c.26A>TMANE SELECT
  • NP_000509.1:p.Lys9Met
  • LRG_1232t1:c.26A>T
  • LRG_1232:g.5076A>T
  • LRG_1232p1:p.Lys9Met
  • NC_000011.9:g.5248226T>A
Protein change:
K9M; LYS8MET
Links:
HBVAR: 235; OMIM: 141900.0460; dbSNP: rs33932981
NCBI 1000 Genomes Browser:
rs33932981
Molecular consequence:
  • NM_000518.5:c.26A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN NAKANO
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037084OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hb Nakano [beta 8(Lys-->Met]: a new beta chain variant found in a Japanese woman.

Harano K, Harano T, Koide G, Akimaru S.

Hemoglobin. 1995;19(6):397-401. No abstract available.

PubMed [citation]
PMID:
8718698

Details of each submission

From OMIM, SCV000037084.4

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

Description

During the assay of glycated hemoglobin by HPLC, Harano et al. (1995) identified a new hemoglobin named Hb Nakano for the district of Tokyo where healthy, 46-year-old Japanese woman lived and showed that it was due to a change of codon 8 from lysine to methionine. See 141900.0135 for the lys8-to-gln mutation, 141900.0191 for the lys8-to-glu mutation, and 141900.0237 for the lys8-to-thr mutation.

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

Last Updated: Apr 23, 2022