U.S. flag

An official website of the United States government

NM_000518.4(HBB):c.20delA (p.Glu7Glyfs) AND beta^0^ Thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1993
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:
RCV000016674.27

Allele description

NM_000518.4(HBB):c.20delA (p.Glu7Glyfs)

Gene:
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.4(HBB):c.20delA (p.Glu7Glyfs)
HGVS:
  • NC_000011.10:g.5227002delT
  • NG_000007.3:g.70614delA
  • NM_000518.4:c.20delA
  • NP_000509.1:p.Glu7Glyfs
  • HBB:c.20delA
  • NC_000011.9:g.5248232delT
  • p.Glu7fs
Links:
HBVAR: 784; OMIM: 141900.0327; dbSNP: rs63749819
NCBI 1000 Genomes Browser:
rs63749819
Allele Frequency:
0.00003(-)
Molecular consequence:
  • NM_000518.4:c.20delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
beta^0^ Thalassemia
Synonyms:
Beta-zero-thalassemia
Identifiers:
MedGen: C0271980

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036944OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1993) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Kazazian, H. H., Jr. Personal Communication. 1990. Baltimore, Md.

Help

Summary from all submissions

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

Citations

PubMed

A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from Algeria.

Bouhass R, Aguercif M, Trabuchet G, Godet J.

Blood. 1990 Sep 1;76(5):1054-5. No abstract available.

PubMed [citation]
PMID:
2393712

Molecular characterization of beta-thalassemia in the Sardinian population.

Rosatelli MC, Dozy A, Faà V, Meloni A, Sardu R, Saba L, Kan YW, Cao A.

Am J Hum Genet. 1992 Feb;50(2):422-6.

PubMed [citation]
PMID:
1734721
PMCID:
PMC1682451
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036944.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Frameshift, -A, codon 6, GAG to GG, was found in Mediterranean patients by Kazazian et al. (1983). Bouhass et al. (1990) found the same mutation in an Algerian patient who was a genetic compound. Rosatelli et al. (1992) found that this mutation accounted for 2.1% of mutations carried by 3,000 beta-thalassemia chromosomes from the Sardinian population. Romey et al. (1993) described an improved procedure that allows the detection of single basepair deletions on nondenaturing polyacrylamide gels and demonstrated its applicability for identifying this mutation.

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

Last Updated: Mar 16, 2018