Variant (rsID / SNP)

rs6886336

rs6886336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BDP1. Location: chromosome 5, position 70,806,958. 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: 5:70806958
Cytoband: 5q13.2
HGVS: NM_018429.3(BDP1):c.4039G>A (p.Val1347Met)
Allele change: Missense_V1347M

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.