NM_000518.4(HBB):c.299A>C (p.Asp100Ala) AND Erythrocytosis, familial, 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1964
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:: RCV000641589.1

Allele description [Variation Report for NM_000518.4(HBB):c.299A>C (p.Asp100Ala)]

NM_000518.4(HBB):c.299A>C (p.Asp100Ala)

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.299A>C (p.Asp100Ala)

Other names:

D99A

HGVS:

NC_000011.10:g.5226593T>G
NG_000007.3:g.71023A>C
NG_042296.1:g.124T>G
NG_046672.1:g.4528T>G
NG_053049.1:g.2914T>G
NG_059281.1:g.5479A>C
NM_000518.5:c.299A>CMANE SELECT
NP_000509.1:p.Asp100Ala
LRG_1232t1:c.299A>C
LRG_1232:g.5479A>C
LRG_1232p1:p.Asp100Ala
NC_000011.9:g.5247823T>G

Protein change:

D100A; ASP99ALA

Links:

HBVAR: 454; OMIM: 141900.0230; dbSNP: rs33971048

NCBI 1000 Genomes Browser:

rs33971048

Molecular consequence:

NM_000518.5:c.299A>C - 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
SCV000763231	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1964)	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

SCV000763231

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1964)

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 J (BALTIMORE) COEXISTING IN A FAMILY WITH HEMOGLOBIN S.

WEATHERALL DJ.

Bull Johns Hopkins Hosp. 1964 Jan;114:1-12. No abstract available.

PubMed [citation]

PMID:: 14117783

Details of each submission

From OMIM, SCV000763231.1

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

Description

Cause of polycythemia. See Weatherall et al. (1977).

#	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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