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NM_000518.4(HBB):c.[176C>G;20A>T] AND HEMOGLOBIN ZIGUINCHOR

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
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:
RCV000030905.14

Alleles description [Variation Report for NM_000518.4(HBB):c.[176C>G;20A>T]]

NM_000518.5(HBB):c.20A>T (p.Glu7Val)

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.20A>T (p.Glu7Val)
Other names:
E6V; HbS
HGVS:
  • NC_000011.10:g.5227002T>A
  • NG_000007.3:g.70614A>T
  • NG_042296.1:g.533T>A
  • NG_046672.1:g.4937T>A
  • NG_059281.1:g.5070A>T
  • NM_000518.5:c.20A>TMANE SELECT
  • NP_000509.1:p.Glu7Val
  • NP_000509.1:p.Glu7Val
  • LRG_1232t1:c.20A>T
  • LRG_1232:g.5070A>T
  • LRG_1232p1:p.Glu7Val
  • NC_000011.9:g.5248232T>A
  • NM_000518.4:c.20A>T
  • P68871:p.Glu7Val
Protein change:
E7V; Glu6Val
Links:
Genetic Testing Registry (GTR): GTR000500319; UniProtKB: P68871#VAR_002863; OMIM: 141900.0039; OMIM: 141900.0040; OMIM: 141900.0243; OMIM: 141900.0244; OMIM: 141900.0245; OMIM: 141900.0246; OMIM: 141900.0247; OMIM: 141900.0521; OMIM: 141900.0523; dbSNP: rs334
NCBI 1000 Genomes Browser:
rs334
Molecular consequence:
  • NM_000518.5:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]

NM_000518.5(HBB):c.176C>G (p.Pro59Arg)

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.176C>G (p.Pro59Arg)
Other names:
P58R; Hb Dhofar; Hb Yukuhashi
HGVS:
  • NC_000011.10:g.5226716G>C
  • NG_000007.3:g.70900C>G
  • NG_042296.1:g.247G>C
  • NG_046672.1:g.4651G>C
  • NG_059281.1:g.5356C>G
  • NM_000518.5:c.176C>GMANE SELECT
  • NP_000509.1:p.Pro59Arg
  • LRG_1232t1:c.176C>G
  • LRG_1232:g.5356C>G
  • LRG_1232p1:p.Pro59Arg
  • NC_000011.9:g.5247946G>C
  • NM_000518.4:c.176C>G
  • P68871:p.Pro59Arg
Protein change:
P59R; PRO58ARG
Links:
HBVAR: 346; UniProtKB: P68871#VAR_002949; OMIM: 141900.0040; OMIM: 141900.0308; dbSNP: rs33991472
NCBI 1000 Genomes Browser:
rs33991472
Molecular consequence:
  • NM_000518.5:c.176C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN ZIGUINCHOR
Synonyms:
HEMOGLOBIN C (GEORGETOWN); HEMOGLOBIN C (HARLEM); HEMOGLOBIN C (ZIGUINCHOR)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036556OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Hemoglobin C Ziguinchor alphaA2 beta62 (A3) Glu leads to Val beta58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain.

Goossens M, Garel MC, Auvinet J, Basset O, Ferreira Gomes P, Rosa J, Arous N.

FEBS Lett. 1975 Oct 15;58(1):149-54. No abstract available.

PubMed [citation]
PMID:
1225575

Properties of the double substituted hemoglobin C Ziguinchor alpha2A beta 2 6 Glu replaced by Val 58 Pro replaced by Arg.

Hassan W, Basset P, Oudart JL, Goossens M, Rosa J.

Hemoglobin. 1977;1(5):487-501.

PubMed [citation]
PMID:
893143

Details of each submission

From OMIM, SCV000036556.4

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

Description

As in the other cases of doubly substituted beta chains, either double mutation or intracistronic recombination in a genetic compound would explain the observation. This hemoglobin sickles because of its glu6-to-val substitution, but is called HbC (not S) because of its electrophoretic properties, which are those of classic HbC. See Goossens et al. (1975) and Hassan et al. (1977).

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

Last Updated: Nov 10, 2024