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NM_000518.4(HBB):c.227T>C (p.Leu76Pro) AND HEMOGLOBIN ATLANTA

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:
RCV000016254.4

Allele description [Variation Report for NM_000518.4(HBB):c.227T>C (p.Leu76Pro)]

NM_000518.4(HBB):c.227T>C (p.Leu76Pro)

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.227T>C (p.Leu76Pro)
Other names:
L75P
HGVS:
  • NC_000011.10:g.5226665A>G
  • NG_000007.3:g.70951T>C
  • NG_042296.1:g.196A>G
  • NG_046672.1:g.4600A>G
  • NG_053049.1:g.2986A>G
  • NG_059281.1:g.5407T>C
  • NM_000518.5:c.227T>CMANE SELECT
  • NP_000509.1:p.Leu76Pro
  • LRG_1232t1:c.227T>C
  • LRG_1232:g.5407T>C
  • LRG_1232p1:p.Leu76Pro
  • NC_000011.9:g.5247895A>G
  • P68871:p.Leu76Pro
Note:
NCBI represents allelic variant 141900.0013 as equivalent at the nucleotide level to allelic variant 141900.0012 based on the paper by George et al., 1992 (PubMed 1520631).
Protein change:
L76P; LEU75PRO AND LEU141DEL
Links:
HBVAR: 389; UniProtKB: P68871#VAR_002976; OMIM: 141900.0012; OMIM: 141900.0013; dbSNP: rs33950542
NCBI 1000 Genomes Browser:
rs33950542
Molecular consequence:
  • NM_000518.5:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN ATLANTA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036522OMIM
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 Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family.

Hubbard M, Winton EF, Lindeman JG, Dessauer PL, Wilson JB, Wrightstone RN, Huisman TH.

Biochim Biophys Acta. 1975 Apr 29;386(2):538-41.

PubMed [citation]
PMID:
1138885

Two unstable hemoglobins in one individual: Hb Atlanta (beta 75 Leu leads to Pro) and Hb Coventry (beta 141 Leu deleted).

Brennan SO, Williamson D, Symmans WA, Carrell RW.

Hemoglobin. 1983;7(4):303-12.

PubMed [citation]
PMID:
6618886

Details of each submission

From OMIM, SCV000036522.4

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

Description

Unstable hemoglobin. See Hubbard et al. (1975) and Brennan et al. (1983).

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

Last Updated: Nov 4, 2023