U.S. flag

An official website of the United States government

NM_000518.5(HBB):c.323dup (p.Asn109fs) AND Beta zero thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 26, 1987
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:
RCV000016668.36

Allele description [Variation Report for NM_000518.5(HBB):c.323dup (p.Asn109fs)]

NM_000518.5(HBB):c.323dup (p.Asn109fs)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.323dup (p.Asn109fs)
Other names:
CD 106/107 (+G)
HGVS:
  • NC_000011.10:g.5225721dup
  • NG_000007.3:g.71897dup
  • NG_046672.1:g.3656dup
  • NG_053049.1:g.2042dup
  • NG_059281.1:g.6353dup
  • NM_000518.5:c.323dupMANE SELECT
  • NP_000509.1:p.Asn109fs
  • LRG_1232t1:c.323dup
  • HBB:c.321_322insG
  • LRG_1232:g.6353dup
  • LRG_1232p1:p.Asn109fs
  • NC_000011.9:g.5246948_5246949insC
  • NC_000011.9:g.5246951dup
  • NM_000518.4:c.323dup
  • NM_000518.4:c.323dupG
  • p.Asn109Glnfs*32
Protein change:
N109fs
Links:
HBVAR: 945; OMIM: 141900.0329; dbSNP: rs35225141
NCBI 1000 Genomes Browser:
rs35225141
Molecular consequence:
  • NM_000518.5:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
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
SCV000036938OMIM
no assertion criteria provided
Pathogenic
(Nov 26, 1987) 		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

Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH Jr.

Nature. 1987 Nov 26-Dec 2;330(6146):384-6.

PubMed [citation]
PMID:
3683554

Details of each submission

From OMIM, SCV000036938.2

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

Description

Frameshift, +G, codons 106/107, CTGGGC to CTGGGGG, was found in American blacks by Wong et al. (1987).

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

Last Updated: Nov 3, 2024