Variant (rsID / SNP)
rs199789331
rs199789331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOT. Location: chromosome 5, position 137,213,248. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYOTBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:137213248
- Cytoband
- 5q31.2
- HGVS
- NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
- Allele change
- Missense_G191R
Associated conditions / phenotypes
Myofibrillar myopathy 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.