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Variant (rsID / SNP)

rs748901883

TSC1

rs748901883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,813. 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
9:135779813
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
Allele change
Missense_W625R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1

Public references

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