Variant (rsID / SNP)

rs775115784

rs775115784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DMDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)
Allele change: Missense_N461S

Associated conditions / phenotypes

Cardiovascular phenotype|Duchenne muscular dystrophy|Cardiomyopathy

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.