Variant (rsID / SNP)

rs138296448

rs138296448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYF6. Location: chromosome 12, position 81,101,767. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYF6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:81101767
Cytoband: 12q21.31
HGVS: NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)
Allele change: Missense_A90D

Associated conditions / phenotypes

Myopathy, centronuclear, 3|Autosomal dominant centronuclear 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.