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

Clinical significance:other (Last evaluated: Dec 12, 2017)

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:
RCV000016527.5

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:
HEMOGLOBIN OHIO
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036795OMIMno assertion criteria providedother
(Dec 12, 2017)
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, SCV000036795.5

#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

Support Center