NM_000548.5(TSC2):c.4493+17C>T 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:
RCV000043262.2

Allele description [Variation Report for NM_000548.5(TSC2):c.4493+17C>T]

NM_000548.5(TSC2):c.4493+17C>T

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.4493+17C>T
HGVS:
  • NC_000016.10:g.2084732C>T
  • NG_005895.1:g.40427C>T
  • NM_000548.5:c.4493+17C>TMANE SELECT
  • NM_001077183.3:c.4292+17C>T
  • NM_001114382.3:c.4424+17C>T
  • NM_001318827.2:c.4184+17C>T
  • NM_001318829.2:c.4148+17C>T
  • NM_001318831.2:c.3761+17C>T
  • NM_001318832.2:c.4325+17C>T
  • NM_001363528.2:c.4295+17C>T
  • NM_001370404.1:c.4361+17C>T
  • NM_001370405.1:c.4364+17C>T
  • NM_021055.3:c.4364+17C>T
  • LRG_487t1:c.4493+17C>T
  • LRG_487:g.40427C>T
  • NC_000016.9:g.2134733C>T
  • NM_000548.3:c.4493+17C>T
  • p.(=)
Links:
Tuberous sclerosis database (TSC2): TSC2_00678; dbSNP: rs45517345
NCBI 1000 Genomes Browser:
rs45517345
Molecular consequence:
  • NM_000548.5:c.4493+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077183.3:c.4292+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114382.3:c.4424+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318827.2:c.4184+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318829.2:c.4148+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318831.2:c.3761+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318832.2:c.4325+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363528.2:c.4295+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370404.1:c.4361+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370405.1:c.4364+17C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021055.3:c.4364+17C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000067063Tuberous sclerosis database (TSC2)no assertion provided
not providedgermlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot providednot providednot providedcuration

Citations

PubMed

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K.

Hum Mutat. 2004 Apr;23(4):397.

PubMed [citation]
PMID:
15024740

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000067063.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Unaffected

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

Last Updated: Nov 27, 2021

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