Variant (rsID / SNP)

rs36009281

rs36009281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BDP1. Location: chromosome 5, position 70,798,541. Clinical significance in the table: Benign.

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Reference-table entries

BDP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:70798541
Cytoband: 5q13.2
HGVS: NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu)
Allele change: Missense_K722E

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.