Variant (rsID / SNP)

rs3025380

rs3025380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBH. Location: chromosome 9, position 136,501,756. Clinical significance in the table: Likely benign.

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Reference-table entries

DBHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:136501756
Cytoband: 9q34.2
HGVS: NM_000787.4(DBH):c.263G>C (p.Gly88Ala)
Allele change: Missense_G88A

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.