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Variant (rsID / SNP)

rs148582008

MYO1A

rs148582008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,423,564. 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
12:57423564
Cytoband
12q13.3
HGVS
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
Allele change
Missense_M895T

Public references

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