Variant (rsID / SNP)

rs141278987

rs141278987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYF6. Location: chromosome 12, position 81,102,327. Clinical significance in the table: Likely benign.

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Reference-table entries

MYF6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:81102327
Cytoband: 12q21.31
HGVS: NM_002469.3(MYF6):c.544A>C (p.Thr182Pro)
Allele change: Missense_T182P

Associated conditions / phenotypes

Myopathy, centronuclear, 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.