Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs374222196

TSC1

rs374222196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,781,044. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TSC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:135781044
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
Allele change
Missense_P590S

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.