Variant (rsID / SNP)

rs200798319

rs200798319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBH. Location: chromosome 9, position 136,516,762. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DBHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:136516762
Cytoband: 9q34.2
HGVS: NM_000787.4(DBH):c.1198C>T (p.Pro400Ser)
Allele change: Missense_P400S

Associated conditions / phenotypes

Dopamine beta-hydroxylase deficiency

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.