Variant (rsID / SNP)

rs145427063

rs145427063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,222,978. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYOTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:137222978
Cytoband: 5q31.2
HGVS: NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
Allele change: Missense_N467K

Associated conditions / phenotypes

Myofibrillar myopathy 3

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.