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Variant (rsID / SNP)

rs199621031

MYO15A

rs199621031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,066,565. 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
17:18066565
Cytoband
17p11.2
HGVS
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)
Allele change
Missense_R3207H

Associated conditions / phenotypes

Rare genetic deafness|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.