NM_000518.4(HBB):c.440A>C (p.His147Pro) AND HEMOGLOBIN YORK

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:: RCV000016648.4

Allele description [Variation Report for NM_000518.4(HBB):c.440A>C (p.His147Pro)]

NM_000518.4(HBB):c.440A>C (p.His147Pro)

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_000518.4(HBB):c.440A>C (p.His147Pro)

Other names:

H146P

HGVS:

NC_000011.10:g.5225602T>G
NG_000007.3:g.72014A>C
NG_046672.1:g.3537T>G
NG_053049.1:g.1923T>G
NG_059281.1:g.6470A>C
NM_000518.5:c.440A>CMANE SELECT
NP_000509.1:p.His147Pro
LRG_1232t1:c.440A>C
LRG_1232:g.6470A>C
LRG_1232p1:p.His147Pro
NC_000011.9:g.5246832T>G
P68871:p.His147Pro

Protein change:

H147P; HIS146PRO

Links:

HBVAR: 576; UniProtKB: P68871#VAR_003094; OMIM: 141900.0305; dbSNP: rs33954264

NCBI 1000 Genomes Browser:

rs33954264

Molecular consequence:

NM_000518.5:c.440A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN YORK
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036917	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1246355, 6874372

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036917

OMIM

no assertion criteria provided

other
(Dec 12, 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

Altered C-terminal salt bridges in haemoglobin York cause high oxygen affinity.

Bare GH, Bromberg PA, Alben JO, Brimhall B, Jones RT, Mintz S, Rother I.

Nature. 1976 Jan 15;259(5539):155-6. No abstract available.

PubMed [citation]

PMID:: 1246355

Characterization and properties of Hb York (beta 146 His leads to Pro).

Kosugi H, Weinstein AS, Kikugawa K, Asakura T, Schroeder WA.

Hemoglobin. 1983;7(3):205-26.

PubMed [citation]

PMID:: 6874372

Details of each submission

From OMIM, SCV000036917.4

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

Description

See Bare et al. (1976) and Kosugi et al. (1983).

#	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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