NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) 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:
RCV000042942.3

Allele description [Variation Report for NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)]

NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)

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.1229T>G (p.Leu410Arg)
HGVS:
  • NC_000016.10:g.2061980T>G
  • NG_005895.1:g.17675T>G
  • NM_000548.5:c.1229T>GMANE SELECT
  • NM_001077183.3:c.1229T>G
  • NM_001114382.3:c.1229T>G
  • NM_001318827.2:c.1118T>G
  • NM_001318829.2:c.1082T>G
  • NM_001318831.2:c.629T>G
  • NM_001318832.2:c.1262T>G
  • NM_001363528.2:c.1229T>G
  • NM_001370404.1:c.1229T>G
  • NM_001370405.1:c.1229T>G
  • NM_021055.3:c.1229T>G
  • NP_000539.2:p.Leu410Arg
  • NP_001070651.1:p.Leu410Arg
  • NP_001107854.1:p.Leu410Arg
  • NP_001305756.1:p.Leu373Arg
  • NP_001305758.1:p.Leu361Arg
  • NP_001305760.1:p.Leu210Arg
  • NP_001305761.1:p.Leu421Arg
  • NP_001350457.1:p.Leu410Arg
  • NP_001357333.1:p.Leu410Arg
  • NP_001357334.1:p.Leu410Arg
  • NP_066399.2:p.Leu410Arg
  • LRG_487t1:c.1229T>G
  • LRG_487:g.17675T>G
  • NC_000016.9:g.2111981T>G
  • NM_000548.3:c.1229T>G
  • p.(Leu410Arg)
Protein change:
L210R
Links:
Tuberous sclerosis database (TSC2): TSC2_01125; dbSNP: rs137854298
NCBI 1000 Genomes Browser:
rs137854298
Molecular consequence:
  • NM_000548.5:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077183.3:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114382.3:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318827.2:c.1118T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318829.2:c.1082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318831.2:c.629T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318832.2:c.1262T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363528.2:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370404.1:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370405.1:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021055.3:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000066739Tuberous sclerosis database (TSC2)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 (TSC2), SCV000066739.3

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

Last Updated: Nov 27, 2021

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