Variant (rsID / SNP)
rs6263
rs6263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDC. Location: chromosome 7, position 50,595,900. Clinical significance in the table: Benign.
Reference-table entries
DDCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:50595900
- Cytoband
- 7p12.1
- HGVS
- NM_001082971.2(DDC):c.649A>G (p.Met217Val)
- Allele change
- Missense_M217V
Associated conditions / phenotypes
Deficiency of aromatic-L-amino-acid decarboxylase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.