Variant (rsID / SNP)

rs370171367

rs370171367 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.3080G>C (p.Gly1027Ala)
Allele change: Missense_G1027A

Associated conditions / phenotypes

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