NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs) 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:
RCV000042052.2

Allele description [Variation Report for NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)]

NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)
HGVS:
  • NC_000009.12:g.132905997_132905998delCT
  • NG_012386.1:g.43636_43637delAG
  • NM_000368.4:c.1580_1581delAG
  • NP_000359.1:p.Gln527Argfs
  • LRG_486t1:c.1580_1581delAG
  • LRG_486:g.43636_43637delAG
  • LRG_486p1:p.Gln527Argfs
  • NC_000009.11:g.135781384_135781385delCT
  • NM_000368.3:c.1580_1581del
  • NM_000368.3:c.1580_1581delAG
  • NM_000368.4:c.1580_1581del
  • p.(Gln527Argfs*7)
Links:
Tuberous sclerosis database (TSC1): TSC1_00099; dbSNP: rs118203550
NCBI 1000 Genomes Browser:
rs118203550
Molecular consequence:
  • NM_000368.4:c.1580_1581delAG - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000065835Tuberous sclerosis database (TSC1)no assertion provided
not providedgermlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ.

Ann Hum Genet. 1998 Nov;62(Pt 6):491-504.

PubMed [citation]
PMID:
10363127

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, et al.

Science. 1997 Aug 8;277(5327):805-8.

PubMed [citation]
PMID:
9242607
See all PubMed Citations (3)

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000065835.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018