Variant (rsID / SNP)
rs1073123
rs1073123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,786,904. Clinical significance in the table: Benign.
Reference-table entries
TSC1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135786904
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
- Allele change
- Missense_M271T
Associated conditions / phenotypes
Tuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis syndrome|Lymphangiomyomatosis|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.