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rs118203657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203657(C;T)
Make rs118203657(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position132903665
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203657
ebirs118203657
HLIrs118203657
Exacrs118203657
Varsomers118203657
Maprs118203657
PheGenIrs118203657
hapmaprs118203657
1000 genomesrs118203657
hgdprs118203657
ensemblrs118203657
gopubmedrs118203657
geneviewrs118203657
scholarrs118203657
googlers118203657
pharmgkbrs118203657
gwascentralrs118203657
openSNPrs118203657
23andMers118203657
23andMe allrs118203657
SNP Nexus

SNPshotrs118203657
SNPdbers118203657
MSV3drs118203657
GWAS Ctlgrs118203657
GMAF0.002296
Max Magnitude0
OMIM605284
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118203657(T;T)
Alt rs118203657(T;T)
Reference rs118203657(C;C)
Significance Other
Disease Focal cortical dysplasia of Taylor type 2B Tuberous sclerosis 1 not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Focal cortical dysplasia of Taylor type 2B Tuberous sclerosis 1 not provided Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135779052G>A
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005409.3, RCV000005410.5, RCV000034607.7, RCV000054851.1, RCV000118692.3, RCV000129684.2,


[PMID 9328481] Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

[PMID 9863590OA-icon.png] Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

[PMID 9924605] Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

[PMID 10227394OA-icon.png] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.