NM_000518.5(HBB):c.328del (p.Val110fs) AND beta^0^ Thalassemia

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1986)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016687.28

Allele description [Variation Report for NM_000518.5(HBB):c.328del (p.Val110fs)]

NM_000518.5(HBB):c.328del (p.Val110fs)

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:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.328del (p.Val110fs)
HGVS:
  • NC_000011.10:g.5225714del
  • NG_000007.3:g.71902del
  • NG_046672.1:g.3649del
  • NG_053049.1:g.2035del
  • NG_059281.1:g.6358del
  • NM_000518.5:c.328delMANE SELECT
  • NP_000509.1:p.Val110fs
  • LRG_1232t1:c.328del
  • HBB:c.328delG
  • LRG_1232:g.6358del
  • LRG_1232p1:p.Val110fs
  • NC_000011.9:g.5246944del
  • NM_000518.4:c.328del
Protein change:
V110fs
Links:
HBVAR: 947; OMIM: 141900.0340; dbSNP: rs63751201
NCBI 1000 Genomes Browser:
rs63751201
Molecular consequence:
  • NM_000518.5:c.328del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036957OMIMno assertion criteria providedPathogenic
(Jun 1, 1986)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Characterization of a spontaneous mutation to a beta-thalassemia allele.

Kazazian HH Jr, Orkin SH, Boehm CD, Goff SC, Wong C, Dowling CE, Newburger PE, Knowlton RG, Brown V, Donis-Keller H.

Am J Hum Genet. 1986 Jun;38(6):860-7.

PubMed [citation]
PMID:
3014870
PMCID:
PMC1684845

Details of each submission

From OMIM, SCV000036957.4

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

Description

Frameshift, -G, codon 109, GTG to TG, found in a Lithuanian by Kazazian et al. (1989).

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

Last Updated: Mar 7, 2021

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