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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037084	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037084

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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