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rs137854225

From SNPedia

ClinVar
Risk rs137854225(;)
Alt rs137854225(;)
Reference rs137854225(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed 0
HGVS NC_000016.9:g.2138305_2138322del18
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013211.25, RCV000043162.3, RCV000055053.1,


[PMID 11112] Acid mucopolysaccharides in fibroblast cultures. 2. 35S-sulfate incorporation kinetics in dependence on pH-value and cell density.


[PMID 11112665OA-icon.png] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.


[PMID 12136241] SNP identification, haplotype analysis, and parental origin of mutations in TSC2.