Variant (rsID / SNP)

rs121908457

rs121908457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,206,504. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYOTPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:137206504
Cytoband: 5q31.2
HGVS: NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
Allele change: Missense_S55F

Associated conditions / phenotypes

Progressive distal muscle weakness|Progressive proximal muscle weakness|8 conditions|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.