NM_000518.4(HBB):c.269G>A (p.Ser90Asn) AND Erythrocytosis 6, familial

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1978)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000641434.1

Allele description [Variation Report for NM_000518.4(HBB):c.269G>A (p.Ser90Asn)]

NM_000518.4(HBB):c.269G>A (p.Ser90Asn)

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.269G>A (p.Ser90Asn)
Other names:
S89N
HGVS:
  • NC_000011.10:g.5226623C>T
  • NG_000007.3:g.70993G>A
  • NG_042296.1:g.154C>T
  • NG_046672.1:g.4558C>T
  • NG_053049.1:g.2944C>T
  • NG_059281.1:g.5449G>A
  • NM_000518.5:c.269G>AMANE SELECT
  • NP_000509.1:p.Ser90Asn
  • LRG_1232t1:c.269G>A
  • LRG_1232:g.5449G>A
  • LRG_1232p1:p.Ser90Asn
  • NC_000011.9:g.5247853C>T
  • NM_000518.4:c.269G>A
  • P68871:p.Ser90Asn
Protein change:
S90N; SER89ASN
Links:
HBVAR: 421; UniProtKB: P68871#VAR_002995; OMIM: 141900.0059; dbSNP: rs33917628
NCBI 1000 Genomes Browser:
rs33917628
Molecular consequence:
  • NM_000518.5:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Erythrocytosis 6, familial (ECYT6)
Synonyms:
ERYTHROCYTOSIS, BETA-GLOBIN TYPE; POLYCYTHEMIA, BETA-GLOBIN TYPE
Identifiers:
MONDO: MONDO:0054801; MedGen: C4693822; OMIM: 617980

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000763075OMIMno assertion criteria providedPathogenic
(Jun 1, 1978)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Thillet, J., Blouquit, Y., Garel, M. C., Dreyfus, B., Reyes, F., Cohen-Solal, M., Beuzard, Y., Rosa, J. Hemoglobin Creteil beta 89 (F5) ser-to-asn: high oxygen affinity variant of hemoglobin frozen in a quaternary R-structure. J. Molec. Med. 1: 135-150, 1976.

Summary from all submissions

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

Citations

PubMed

Hemoglobin Creteil: oxygen transport by erythrocytes. In-vitro and in-vivo studies in a high oxygen-affinity mutant hemoglobin.

Poyart C, Bursaux E, Teisseire B, Freminet A, Duvelleroy M, Rosa J.

Ann Intern Med. 1978 Jun;88(6):758-63.

PubMed [citation]
PMID:
27132

Details of each submission

From OMIM, SCV000763075.1

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

Description

Erythrocytosis results. See Thillet et al. (1976) and Poyart et al. (1978).

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

Last Updated: Nov 27, 2021

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