Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199991910

TSC2

rs199991910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,105,473. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TSC2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:2105473
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.552C>T (p.Val184=)
Allele change
Synonymous_V184V

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing 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.