NM_000518.4(HBB):c.374C>A (p.Pro125Gln) AND Erythrocytosis, familial, 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1978
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:: RCV000641615.1

Allele description [Variation Report for NM_000518.4(HBB):c.374C>A (p.Pro125Gln)]

NM_000518.4(HBB):c.374C>A (p.Pro125Gln)

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.374C>A (p.Pro125Gln)

Other names:

P124Q

HGVS:

NC_000011.10:g.5225668G>T
NG_000007.3:g.71948C>A
NG_046672.1:g.3603G>T
NG_053049.1:g.1989G>T
NG_059281.1:g.6404C>A
NM_000518.5:c.374C>AMANE SELECT
NP_000509.1:p.Pro125Gln
LRG_1232t1:c.374C>A
LRG_1232:g.6404C>A
LRG_1232p1:p.Pro125Gln
NC_000011.9:g.5246898G>T
NM_000518.4:c.374C>A
P68871:p.Pro125Gln

Protein change:

P125Q; PRO124GLN

Links:

HBVAR: 516; UniProtKB: P68871#VAR_003053; OMIM: 141900.0289; dbSNP: rs33983276

NCBI 1000 Genomes Browser:

rs33983276

Molecular consequence:

NM_000518.5:c.374C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Erythrocytosis, familial, 6
Synonyms:: ERYTHROCYTOSIS, BETA-GLOBIN TYPE; POLYCYTHEMIA, BETA-GLOBIN TYPE
Identifiers:: MONDO: MONDO:0054801; MedGen: C4693822; OMIM: 617980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000763257	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1978)	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

SCV000763257

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1978)

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

Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact.

Bursaux E, Blouquit Y, Poyart C, Rosa J.

FEBS Lett. 1978 Apr 1;88(1):155-9. No abstract available.

PubMed [citation]

PMID:: 639985

Details of each submission

From OMIM, SCV000763257.1

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

Description

See Bursaux et al. (1978).

#	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: Sep 29, 2024

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