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Variant (rsID / SNP)

rs121908970

MYO15A

rs121908970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,051,447. 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
17:18051447
Cytoband
17p11.2
HGVS
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
Allele change
Missense_T2205I

Associated conditions / phenotypes

Deafness, with smith-magenis syndrome|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.