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NM_000518.4(HBB):c.203T>G (p.Val68Gly) AND HEMOGLOBIN MANUKAU

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:
RCV000016792.4

Allele description [Variation Report for NM_000518.4(HBB):c.203T>G (p.Val68Gly)]

NM_000518.4(HBB):c.203T>G (p.Val68Gly)

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_000518.4(HBB):c.203T>G (p.Val68Gly)
Other names:
V67G
HGVS:
  • NC_000011.10:g.5226689A>C
  • NG_000007.3:g.70927T>G
  • NG_042296.1:g.220A>C
  • NG_046672.1:g.4624A>C
  • NG_053049.1:g.3010A>C
  • NG_059281.1:g.5383T>G
  • NM_000518.5:c.203T>GMANE SELECT
  • NP_000509.1:p.Val68Gly
  • LRG_1232t1:c.203T>G
  • LRG_1232:g.5383T>G
  • LRG_1232p1:p.Val68Gly
  • NC_000011.9:g.5247919A>C
  • NM_000518.4:c.203T>G
  • P68871:p.Val68Gly
Protein change:
V68G; VAL67GLY
Links:
HBVAR: 372; UniProtKB: P68871#VAR_040060; OMIM: 141900.0438; dbSNP: rs33918343
NCBI 1000 Genomes Browser:
rs33918343
Molecular consequence:
  • NM_000518.5:c.203T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN MANUKAU
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037062OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia.

Fay KC, Brennan SO, Costello JM, Potter HC, Williamson DA, Trent RJ, Ockelford PA, Boswell DR.

Br J Haematol. 1993 Oct;85(2):352-5.

PubMed [citation]
PMID:
8280608

Details of each submission

From OMIM, SCV000037062.4

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

Description

Fay et al. (1993) described hemoglobin Manukau in 2 brothers presenting with nonspherocytic hemolytic anemia who became transfusion-dependent by 6 months of age. The severity of clinical expression seemed to be modulated by coexisting alpha-thalassemia. The brothers had a Niuean mother and a New Zealand Maori father. A second unusual feature was a modification of beta-141 leu, which appeared to be deleted because posttranslational modification had changed leu-141 to a residue (probably hydroxyleucine) that was not detected by standard amino acid analysis and sequencing methods. The same feature occurs in Hb Coventry (141900.0055).

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

Last Updated: Feb 7, 2023