NM_000548.4(TSC2):c.*71C>A 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:
RCV000043441.2

Allele description [Variation Report for NM_000548.4(TSC2):c.*71C>A]

NM_000548.4(TSC2):c.*71C>A

Gene:
TSC2:tuberous sclerosis 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.4(TSC2):c.*71C>A
HGVS:
  • NC_000016.10:g.2088681C>A
  • NG_005895.1:g.44376C>A
  • NM_000548.4:c.*71C>A
  • LRG_487t1:c.*71C>A
  • LRG_487:g.44376C>A
  • NC_000016.9:g.2138682C>A
  • NM_000548.3:c.*71C>A
  • p.(=)
Links:
Tuberous sclerosis database (TSC2): TSC2_00670; dbSNP: 45498900
GMAF:
0.0018(T), 45498900
NCBI 1000 Genomes Browser:
rs45498900
Molecular consequence:
  • NM_000548.4:c.*71C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Identifiers:
MedGen: C0041341; OMIM: PS191100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000067248Tuberous sclerosis database (TSC2)no assertion provided
not providedgermlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000067248.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016