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Variant (rsID / SNP)

rs760395277

TSC2PKD1

rs760395277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,253. 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
16:2138253
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
Allele change
Missense_R1663H

Associated conditions / phenotypes

Tuberous sclerosis 2|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.