Variant (rsID / SNP)
rs28647489
rs28647489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAT1. Location: chromosome 4, position 187,531,022. The table records no clinical significance for this variant.
Reference-table entries
FAT1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 4:187531022
- HGVS
- NM_005245.4,c.10001T>C,p.Val3334Ala
- Allele change
- Missense_V3334A
Associated conditions / phenotypes
Oral Squamous Cell Carcinoma|Oculopharyngeal Muscular Dystrophy|Oral Submucous Fibrosis|Leukoplakia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.