Variant (rsID / SNP)

rs71578935

rs71578935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,211,606. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYOTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:137211606
Cytoband: 5q31.2
HGVS: NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
Allele change: Missense_E149Q

Associated conditions / phenotypes

Myofibrillar myopathy 3|Heart failure|Spheroid body myopathy

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.