Variant (rsID / SNP)

rs74853476

rs74853476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBH. Location: chromosome 9, position 136,501,834. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DBHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:136501834
Cytoband: 9q34.2
HGVS: NM_000787.4(DBH):c.339+2T>C
Allele change: Silent

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.