NM_000518.4(HBB):c.247A>C (p.Lys83Gln) AND HEMOGLOBIN TSURUMAI

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:: RCV000016818.3

Allele description [Variation Report for NM_000518.4(HBB):c.247A>C (p.Lys83Gln)]

NM_000518.4(HBB):c.247A>C (p.Lys83Gln)

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.247A>C (p.Lys83Gln)

Other names:

K82Q

HGVS:

NC_000011.10:g.5226645T>G
NG_000007.3:g.70971A>C
NG_042296.1:g.176T>G
NG_046672.1:g.4580T>G
NG_053049.1:g.2966T>G
NG_059281.1:g.5427A>C
NM_000518.5:c.247A>CMANE SELECT
NP_000509.1:p.Lys83Gln
LRG_1232t1:c.247A>C
LRG_1232:g.5427A>C
LRG_1232p1:p.Lys83Gln
NC_000011.9:g.5247875T>G

Protein change:

K83Q; LYS82GLN

Links:

HBVAR: 408; OMIM: 141900.0464; dbSNP: rs33940051

NCBI 1000 Genomes Browser:

rs33940051

Molecular consequence:

NM_000518.5:c.247A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN TSURUMAI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037088	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

SCV000037088

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 Tsurumai [beta 82(EF6)Lys-->Gln]: a new Hb variant with high oxygen affinity and erythrocytosis.

Ohba Y, Yamada H, Takamatsu S, Imai K.

Hemoglobin. 1996 May;20(2):141-6. No abstract available.

PubMed [citation]

PMID:: 8811318

Details of each submission

From OMIM, SCV000037088.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 46-year-old Japanese male with plethora and erythrocytosis, Ohba et al. (1996) found a lys82gln amino acid substitution in the beta-globin chain. A son also had erythremia due to this hemoglobin variant.

#	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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