NM_000517.6(HBA2):c.301-24delinsCTCGGCCC AND alpha Thalassemia

Clinical significance:Benign (Last evaluated: Nov 25, 2019)

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:
RCV001078245.1

Allele description [Variation Report for NM_000517.6(HBA2):c.301-24delinsCTCGGCCC]

NM_000517.6(HBA2):c.301-24delinsCTCGGCCC

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
Other names:
IVS II-119 (-G) (+CTCGGCCC)
HGVS:
  • NC_000016.10:g.173448delinsCTCGGCCC
  • NG_000006.1:g.34311delinsCTCGGCCC
  • NG_046165.1:g.3187delinsCTCGGCCC
  • NG_059186.1:g.1798delinsCTCGGCCC
  • NG_059271.1:g.5602delinsCTCGGCCC
  • NM_000517.6:c.301-24delinsCTCGGCCCMANE SELECT
  • LRG_1240t1:c.301-24delinsCTCGGCCC
  • LRG_1225:g.1798delinsCTCGGCCC
  • LRG_1240:g.5602delinsCTCGGCCC
  • NC_000016.9:g.223447delGinsCTCGGCCC
  • NC_000016.9:g.223447delinsCTCGGCCC
  • NM_000517.4:c.301-24delinsCTCGGCCC
Links:
dbSNP: rs1596570272
NCBI 1000 Genomes Browser:
rs1596570272
Molecular consequence:
  • NM_000517.6:c.301-24delinsCTCGGCCC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
alpha Thalassemia
Synonyms:
A-Thalassemia
Identifiers:
MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001244387The ITHANET community portal, The Cyprus Institute of Neurology and Geneticsno assertion criteria providedBenign
(Nov 25, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi.

Pang W, Weng X, Ye X, Long J, Wu S, Sun L, Wei C, Chen M, Tang W, Qiu S, Zhang C.

Gene. 2016 May 25;583(1):24-8. doi: 10.1016/j.gene.2016.02.041. Epub 2016 Feb 28.

PubMed [citation]
PMID:
26930363

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 30, 2021

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