Variant (rsID / SNP)
rs1800470
rs1800470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB1. Location: chromosome 19, position 41,858,921. Clinical significance in the table: Benign.
Reference-table entries
TGFB1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:41858921
- Cytoband
- 19q13.2
- HGVS
- NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
- Allele change
- Missense_P10L
Associated conditions / phenotypes
Breast cancer, invasive, susceptibility to|Cystic fibrosis|Inflammatory bowel disease, immunodeficiency, and encephalopathy|Diaphyseal dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.