• replaced

NM_000548.3(TSC2):c.*57_*60delAATA AND Tuberous sclerosis syndrome

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000042925.2

Allele description

NM_000548.3(TSC2):c.*57_*60delAATA

Gene:
TSC2:tuberous sclerosis 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.3(TSC2):c.*57_*60delAATA
HGVS:
  • NC_000016.10:g.2088667_2088670delAATA
  • NG_005895.1:g.44362_44365delAATA
  • NM_000548.3:c.*57_*60delAATA
  • LRG_487t1:c.*57_*60delAATA
  • LRG_487:g.44362_44365delAATA
  • NC_000016.9:g.2138668_2138671delAATA
  • NM_000548.3:c.*57_*60del
  • p.(=)
Links:
Tuberous sclerosis database (TSC2): TSC2_00706; dbSNP: 137854365
NCBI 1000 Genomes Browser:
rs137854365
Molecular consequence:
  • NM_000548.3:c.*57_*60delAATA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Identifiers:
MedGen: C0041341

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000066722Tuberous sclerosis database (TSC2)no assertion provided
(Tuberous Sclerosis Database Assertion Criteria 2015)
not providedgermlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

Gilbert JR, Guy V, Kumar A, Wolpert C, Kandt R, Aylesworth A, Roses AD, Pericak-Vance MA.

Neurogenetics. 1998 Aug;1(4):267-72.

PubMed [citation]
PMID:
10732801

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000066722.3

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

Last Updated: Dec 5, 2015