NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) 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:
RCV000055007.4

Allele description [Variation Report for NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)]

NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)

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.3387C>T (p.Ala1129=)
Other names:
p.A1129A:GCC>GCT
HGVS:
  • NC_000009.12:g.132896343G>A
  • NG_012386.1:g.53291C>T
  • NM_000368.5:c.3387C>TMANE SELECT
  • NM_001162426.2:c.3384C>T
  • NM_001162427.2:c.3234C>T
  • NM_001362177.2:c.3024C>T
  • NP_000359.1:p.Ala1129=
  • NP_000359.1:p.Ala1129=
  • NP_001155898.1:p.Ala1128=
  • NP_001155899.1:p.Ala1078=
  • NP_001349106.1:p.Ala1008=
  • LRG_486t1:c.3387C>T
  • LRG_486:g.53291C>T
  • LRG_486p1:p.Ala1129=
  • NC_000009.11:g.135771730G>A
  • NM_000368.4:c.3387C>T
  • p.(=)
Links:
Tuberous sclerosis database (TSC1): TSC1_00421; dbSNP: rs200200869
NCBI 1000 Genomes Browser:
rs200200869
Molecular consequence:
  • NM_000368.5:c.3387C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162426.2:c.3384C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001162427.2:c.3234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001362177.2:c.3024C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000083225Tuberous sclerosis database (TSC1)no assertion provided
not providedgermlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Tuberous sclerosis database (TSC1), SCV000083225.2

#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 4, 2021

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