Variant (rsID / SNP)

rs751095907

rs751095907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DMDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
Allele change: Missense_R164H

Associated conditions / phenotypes

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

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.