NM_000518.4(HBB):c.248A>C (p.Lys83Thr) AND HEMOGLOBIN RAHERE

This record was updated by the submitter. Please see the current version.

Germline classification:: other (1 submission)
Last evaluated:: Feb 27, 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:: RCV000016561.3

Allele description

NM_000518.4(HBB):c.248A>C (p.Lys83Thr)

Gene:

HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.4(HBB):c.248A>C (p.Lys83Thr)

HGVS:

NC_000011.10:g.5226644T>G
NG_000007.3:g.70972A>C
NM_000518.4:c.248A>C
NP_000509.1:p.Lys83Thr
NC_000011.9:g.5247874T>G

Protein change:

K82T; LYS82THR

Links:

HBVAR: 406; OMIM: 141900.0231; dbSNP: rs33987903

NCBI 1000 Genomes Browser:

rs33987903

Molecular consequence:

NM_000518.4:c.248A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN RAHERE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036829	OMIM	no assertion criteria provided	other (Feb 27, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 124, 3930571

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036829

OMIM

no assertion criteria provided

other
(Feb 27, 2017)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia.

Lorkin PA, Stephens AD, Beard ME, Wrigley PF, Adams L, Lehmann H.

Br Med J. 1975 Oct 25;4(5990):200-2.

PubMed [citation]

PMID:: 124
PMCID:: PMC1675002

Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site. Functional consequences of the alteration and effects of bezafibrate on the oxygen bindings.

Sugihara J, Imamura T, Nagafuchi S, Bonaventura J, Bonaventura C, Cashon R.

J Clin Invest. 1985 Sep;76(3):1169-73.

PubMed [citation]

PMID:: 3930571
PMCID:: PMC424016

Details of each submission

From OMIM, SCV000036829.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

See Lorkin et al. (1975) and Sugihara et al. (1985). Beta 82 is at the binding site of 2,3-diphosphoglycerate. Hb Rahere is accompanied by erythrocytosis.

#	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: Dec 15, 2017

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