Variant (rsID / SNP)

rs397514783

rs397514783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,778,111. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135778111
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
Allele change: Nonsense_Q707X

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Tuberous sclerosis 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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