Variant (rsID / SNP)
rs149266909
rs149266909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FTCD. Location: chromosome 21, position 47,556,920. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FTCDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47556920
- Cytoband
- 21q22.3
- HGVS
- NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
- Allele change
- Synonymous_L529L
Associated conditions / phenotypes
Glutamate formiminotransferase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.