Variant (rsID / SNP)
rs16990264
rs16990264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DMDBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
- Allele change
- Missense_N331K
Associated conditions / phenotypes
Cardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.