NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) 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:
RCV000054977.2

Allele description [Variation Report for NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)]

NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)

Gene:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
HGVS:
  • NC_000009.12:g.132910603G>T
  • NG_012386.1:g.39031C>A
  • NM_000368.4:c.1231C>A
  • NM_000368.5:c.1231C>AMANE SELECT
  • NM_001162426.2:c.1228C>A
  • NM_001162427.2:c.1078C>A
  • NM_001362177.2:c.868C>A
  • NP_000359.1:p.Leu411Ile
  • NP_000359.1:p.Leu411Ile
  • NP_001155898.1:p.Leu410Ile
  • NP_001155899.1:p.Leu360Ile
  • NP_001349106.1:p.Leu290Ile
  • LRG_486t1:c.1231C>A
  • LRG_486:g.39031C>A
  • LRG_486p1:p.Leu411Ile
  • NC_000009.11:g.135785990G>T
  • Q92574:p.Leu411Ile
  • p.(Leu411Ile)
Protein change:
L290I
Links:
Tuberous sclerosis database (TSC1): TSC1_00469; UniProtKB: Q92574#VAR_070650; dbSNP: rs397514840
NCBI 1000 Genomes Browser:
rs397514840
Molecular consequence:
  • NM_000368.4:c.1231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000368.5:c.1231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162426.2:c.1228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001162427.2:c.1078C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362177.2:c.868C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000083195Tuberous sclerosis database (TSC1)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 providedgermlineyes1not providednot providednot providednot providedcuration

Citations

PubMed

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PubMed [citation]
PMID:
22161988

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000083195.2

#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: Nov 27, 2021

Support Center