Variant (rsID / SNP)

rs199721728

rs199721728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BDP1. Location: chromosome 5, position 70,860,710. Clinical significance in the table: Likely benign.

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Reference-table entries

BDP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:70860710
Cytoband: 5q13.2
HGVS: NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)
Allele change: Missense_X2625E

Associated conditions / phenotypes

Hearing loss, autosomal recessive 112

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.