Variant (rsID / SNP)

rs1047183

rs1047183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYF6. Location: chromosome 12, position 81,103,085. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYF6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:81103085
Cytoband: 12q21.31
HGVS: NM_002469.3(MYF6):c.*346A>G
Allele change: Silent

Associated conditions / phenotypes

Centronuclear Myopathy, Dominant

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.