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NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) AND Erythrocytosis, familial, 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 1986
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:
RCV000641166.1

Allele description [Variation Report for NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)]

NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)

Genes:
LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)
Other names:
R92Q
HGVS:
  • NC_000016.10:g.177111G>A
  • NG_000006.1:g.37974G>A
  • NG_046166.1:g.2594G>A
  • NG_059186.1:g.5461G>A
  • NM_000558.5:c.278G>AMANE SELECT
  • NP_000549.1:p.Arg93Gln
  • LRG_1225t1:c.278G>A
  • LRG_1225:g.5461G>A
  • LRG_1225p1:p.Arg93Gln
  • NC_000016.9:g.227110G>A
  • P69905:p.Arg93Gln
Protein change:
R93Q; ARG92GLN
Links:
HBVAR: 146; UniProtKB: P69905#VAR_002813; OMIM: 141800.0063; dbSNP: rs33991779
NCBI 1000 Genomes Browser:
rs33991779
Molecular consequence:
  • NM_000558.5:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Erythrocytosis, familial, 7
Synonyms:
ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE; POLYCYTHEMIA, ALPHA-GLOBIN TYPE; ERYTHROCYTOSIS 7
Identifiers:
MONDO: MONDO:0054802; MedGen: C4693823; OMIM: 617981

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000762803OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 1986) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2.

Botha MC, Beale D, Isaacs WA, Lehmann H.

Nature. 1966 Nov 19;212(5064):792-5. No abstract available.

PubMed [citation]
PMID:
5988206

Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity.

Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M.

Hemoglobin. 1983;7(1):85-90. No abstract available.

PubMed [citation]
PMID:
6188720
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000762803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See Botha et al. (1966), Harano et al. (1983), and Lambridis et al. (1986). Erythrocytosis (ECYT7; 617981) is a clinical feature.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022