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NM_000518.5(HBB):c.268A>C (p.Ser90Arg) AND Erythrocytosis, familial, 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 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:
RCV000641619.1

Allele description [Variation Report for NM_000518.5(HBB):c.268A>C (p.Ser90Arg)]

NM_000518.5(HBB):c.268A>C (p.Ser90Arg)

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_000518.5(HBB):c.268A>C (p.Ser90Arg)
Other names:
S89R
HGVS:
  • NC_000011.10:g.5226624T>G
  • NG_000007.3:g.70992A>C
  • NG_042296.1:g.155T>G
  • NG_046672.1:g.4559T>G
  • NG_053049.1:g.2945T>G
  • NG_059281.1:g.5448A>C
  • NM_000518.5:c.268A>CMANE SELECT
  • NP_000509.1:p.Ser90Arg
  • LRG_1232t1:c.268A>C
  • LRG_1232:g.5448A>C
  • LRG_1232p1:p.Ser90Arg
  • NC_000011.9:g.5247854T>G
  • P68871:p.Ser90Arg
Protein change:
S90R; SER89ARG
Links:
UniProtKB: P68871#VAR_002996; OMIM: 141900.0292; dbSNP: rs35351128
NCBI 1000 Genomes Browser:
rs35351128
Molecular consequence:
  • NM_000518.5:c.268A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000763261OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 1978) 		germlineliterature only

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

Puett, D., Paniker, N. V., Lin, K. D., Flexner, J. M., Wasserman, B. K., Krantz, S. B. Hemoglobin Vanderbilt (beta 89 (F5) ser-to-arg): a new hemoglobin mutant with increased oxygen affinity and lowered response to 2,3-diphosphoglycerate. (Abstract) Clin. Res. 25: 53A, 1977.

Help

Summary from all submissions

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

Citations

PubMed

Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis.

Paniker NV, Lin KT, Krantz SB, Flexner JM, Wasserman BK, Puett D.

Br J Haematol. 1978 Jun;39(2):249-58.

PubMed [citation]
PMID:
678476

Details of each submission

From OMIM, SCV000763261.1

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

Description

See Puett et al. (1977) and Paniker et al. (1978).

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

Last Updated: Apr 23, 2022