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Variant (rsID / SNP)

rs200623501

MYO15A

rs200623501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO15A. Location: chromosome 17, position 18,052,095. 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
17:18052095
Cytoband
17p11.2
HGVS
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
Allele change
Missense_R2262H

Public references

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