Variant (rsID / SNP)

rs28937597

rs28937597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,206,510. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYOTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:137206510
Cytoband: 5q31.2
HGVS: NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
Allele change: Missense_T57I

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.