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NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND HEMOGLOBIN ROCKFORD

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:
RCV000016880.11

Allele description [Variation Report for NM_000518.5(HBB):c.205C>T (p.Leu69Phe)]

NM_000518.5(HBB):c.205C>T (p.Leu69Phe)

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.205C>T (p.Leu69Phe)
Other names:
L68F
HGVS:
  • NC_000011.10:g.5226687G>A
  • NG_000007.3:g.70929C>T
  • NG_042296.1:g.218G>A
  • NG_046672.1:g.4622G>A
  • NG_053049.1:g.3008G>A
  • NG_059281.1:g.5385C>T
  • NM_000518.5:c.205C>TMANE SELECT
  • NP_000509.1:p.Leu69Phe
  • NP_000509.1:p.Leu69Phe
  • LRG_1232t1:c.205C>T
  • LRG_1232:g.5385C>T
  • LRG_1232p1:p.Leu69Phe
  • NC_000011.9:g.5247917G>A
  • NM_000518.4:c.205C>T
Protein change:
L69F; LEU68PHE
Links:
OMIM: 141900.0523; OMIM: 141900.0524; dbSNP: rs33961459
NCBI 1000 Genomes Browser:
rs33961459
Molecular consequence:
  • NM_000518.5:c.205C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN ROCKFORD
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037150OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Perrault, J., Fairbanks, V. F., McCormick, D. J., Kubik, K., Madden, B. J., Holmes, M. W., Hoyer, J. D. Hemoglobin Rockford, beta68(E12)leu-to-phe: a new HB variant associated with mild anemia. (Abstract) Blood 90 (Suppl. 1): 30b, 1997.

Help

Summary from all submissions

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

Citations

PubMed

Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity.

Geva A, Clark JJ, Zhang Y, Popowicz A, Manning JM, Neufeld EJ.

N Engl J Med. 2004 Oct 7;351(15):1532-8.

PubMed [citation]
PMID:
15470216

Details of each submission

From OMIM, SCV000037150.4

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

Description

Perrault et al. (1997) described a low-affinity, stable hemoglobin variant that did not result in hemolysis, which they designated Hb Rockford; the variant is caused by a 335C-T transition in the HBB gene, resulting in a leu68-to-phe (L68F) substitution. Geva et al. (2004) described a hemoglobin variant with 2 amino acid substitutions, Hb Rockford and Hb S (G6V; 141900.0243), which they designated Hb Jamaica Plain (141900.0523).

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

Last Updated: Nov 10, 2024