Variant (rsID / SNP)

rs144293557

rs144293557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDC. Location: chromosome 7, position 50,534,964. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DDCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:50534964
Cytoband: 7p12.2
HGVS: NM_001082971.2(DDC):c.1190G>A (p.Arg397His)
Allele change: Missense_R397H

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.