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Variant (rsID / SNP)

rs370708976

MYO1A

rs370708976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,423,001. 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
12:57423001
Cytoband
12q13.3
HGVS
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)
Allele change
Missense_E974K

Public references

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