Variant (rsID / SNP)

rs13306301

rs13306301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBH. Location: chromosome 9, position 136,508,640. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DBHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:136508640
Cytoband: 9q34.2
HGVS: NM_000787.4(DBH):c.850G>A (p.Asp284Asn)
Allele change: Missense_D284N

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.