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Variant (rsID / SNP)

rs118203750

TSC1

rs118203750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,771,827. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:135771827
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
Allele change
Missense_R1046H

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.