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Variant (rsID / SNP)

rs200140994

TSC2PKD1

rs200140994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2138555
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
Allele change
Missense_V1724M

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2

Public references

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