Variant (rsID / SNP)

rs5972467

rs5972467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DMDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.6614+3294G>A
Allele change: Silent

Associated conditions / phenotypes

Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy

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.