Variant (rsID / SNP)

rs755655903

rs755655903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,786,910. 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: Microsatellite
Chromosome / position: 9:135786910
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)

Associated conditions / phenotypes

Tuberous sclerosis 1|Seizure|Hereditary cancer-predisposing syndrome

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.