Variant (rsID / SNP)
rs116089237
rs116089237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FTCD. Location: chromosome 21, position 47,571,810. Clinical significance in the table: Benign.
Reference-table entries
FTCDBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47571810
- Cytoband
- 21q22.3
- HGVS
- NM_206965.2(FTCD):c.452A>T (p.Lys151Met)
- Allele change
- Missense_K151M
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.