Variant (rsID / SNP)

rs6262

rs6262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDC. Location: chromosome 7, position 50,595,920. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DDCBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:50595920
Cytoband: 7p12.1
HGVS: NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
Allele change: Missense_P210L

Associated conditions / phenotypes

Deficiency of aromatic-L-amino-acid decarboxylase

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.