Variant (rsID / SNP)

rs201978571

rs201978571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,047,111. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYO15APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:18047111
Cytoband: 17p11.2
HGVS: NM_016239.4(MYO15A):c.6046+1G>A
Allele change: Silent

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3

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.