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Variant (rsID / SNP)

rs150293853

MYOT

rs150293853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,213,210. 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
5:137213210
Cytoband
5q31.2
HGVS
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
Allele change
Missense_R178H

Associated conditions / phenotypes

Spheroid body myopathy|Limb-Girdle Muscular Dystrophy, Dominant|Myofibrillar Myopathy, Dominant|Myofibrillar myopathy 3

Public references

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