NM_000518.4(HBB):c.428C>A (p.Ala143Asp) AND Erythrocytosis 6, familial

Clinical significance:Pathogenic (Last evaluated: Oct 4, 1988)

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:
RCV000641554.1

Allele description [Variation Report for NM_000518.4(HBB):c.428C>A (p.Ala143Asp)]

NM_000518.4(HBB):c.428C>A (p.Ala143Asp)

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.428C>A (p.Ala143Asp)
Other names:
A142D
HGVS:
  • NC_000011.10:g.5225614G>T
  • NG_000007.3:g.72002C>A
  • NG_046672.1:g.3549G>T
  • NG_053049.1:g.1935G>T
  • NG_059281.1:g.6458C>A
  • NM_000518.5:c.428C>AMANE SELECT
  • NP_000509.1:p.Ala143Asp
  • LRG_1232t1:c.428C>A
  • LRG_1232:g.6458C>A
  • LRG_1232p1:p.Ala143Asp
  • NC_000011.9:g.5246844G>T
  • NM_000518.4:c.428C>A
  • P68871:p.Ala143Asp
Protein change:
A143D; ALA142ASP
Links:
HBVAR: 559; UniProtKB: P68871#VAR_003084; OMIM: 141900.0204; dbSNP: rs33921821
NCBI 1000 Genomes Browser:
rs33921821
Molecular consequence:
  • NM_000518.5:c.428C>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
SCV000763196OMIMno assertion criteria providedPathogenic
(Oct 4, 1988)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Hemoglobin Brockton [beta 138 (H16) Ala----Pro]: an unstable variant near the C-terminus of the beta-subunits with normal oxygen-binding properties.

Moo-Penn WF, Jue DL, Johnson MH, Olsen KW, Shih D, Jones RT, Lux SE, Rodgers P, Arnone A.

Biochemistry. 1988 Oct 4;27(20):7614-9.

PubMed [citation]
PMID:
3207692

Details of each submission

From OMIM, SCV000763196.1

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

Description

High oxygen affinity leads to erythrocytosis. See Moo-Penn et al. (1980).

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

Last Updated: Oct 16, 2021

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