Variant (rsID / SNP)

rs55985817

rs55985817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,423,517. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO1AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:57423517
Cytoband: 12q13.3
HGVS: NM_005379.4(MYO1A):c.2724+7G>A
Allele change: Silent

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.