Variant (rsID / SNP)
rs111854391
rs111854391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,900,288. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TGFBR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:101900288
- Cytoband
- 9q22.33
- HGVS
- NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
- Allele change
- Missense_S164L
Associated conditions / phenotypes
Loeys-Dietz syndrome 1|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Marfan syndrome|Loeys-Dietz syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.