Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs786202178

TSC2

rs786202178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,131,762. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2131762
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
Allele change
Synonymous_S1216S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Tuberous sclerosis 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.