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Variant (rsID / SNP)

rs201689819

MYO15A

rs201689819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,027,846. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO15AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:18027846
Cytoband
17p11.2
HGVS
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
Allele change
Missense_G1220E

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.