NM_000518.4(HBB):c.440A>G (p.His147Arg) AND HEMOGLOBIN COCHIN-PORT ROYAL

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:
RCV000016302.5

Allele description [Variation Report for NM_000518.4(HBB):c.440A>G (p.His147Arg)]

NM_000518.4(HBB):c.440A>G (p.His147Arg)

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.440A>G (p.His147Arg)
Other names:
H146R
HGVS:
  • NC_000011.10:g.5225602T>C
  • NG_000007.3:g.72014A>G
  • NG_046672.1:g.3537T>C
  • NG_053049.1:g.1923T>C
  • NG_059281.1:g.6470A>G
  • NM_000518.5:c.440A>GMANE SELECT
  • NP_000509.1:p.His147Arg
  • LRG_1232t1:c.440A>G
  • LRG_1232:g.6470A>G
  • LRG_1232p1:p.His147Arg
  • NC_000011.9:g.5246832T>C
Protein change:
H147R; HIS146ARG
Links:
HBVAR: 577; OMIM: 141900.0051; dbSNP: rs33954264
NCBI 1000 Genomes Browser:
rs33954264
Molecular consequence:
  • NM_000518.5:c.440A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN COCHIN-PORT ROYAL
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036570OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Hemoglobin Cochin-Port-Royal: consequences of the replacement of the beta chain C-terminal by an arginine.

Wajcman H, Kilmartin JV, Najman A, Labie D.

Biochim Biophys Acta. 1975 Aug 19;400(2):354-64.

PubMed [citation]
PMID:
240418

Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX.

De Angioletti M, Maglione G, Ferranti P, de Bonis C, Lacerra G, Scarallo A, Pagano L, Fioretti G, Cutolo R, Malorni A, et al.

Hemoglobin. 1992;16(1-2):27-34.

PubMed [citation]
PMID:
1353069

Details of each submission

From OMIM, SCV000036570.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Wajcman et al. (1975).

De Angioletti et al. (2002) described the comparable mutation in the delta chain of hemoglobin A, designated HBA2-Monreale (142000.0038).

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

Last Updated: Sep 29, 2021

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