Variant (rsID / SNP)
rs150062050
rs150062050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUCA1. Location: chromosome 1, position 24,192,072. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FUCA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:24192072
- Cytoband
- 1p36.11
- HGVS
- NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
- Allele change
- Missense_W145R
Associated conditions / phenotypes
Fucosidosis|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.