Variant (rsID / SNP)

rs794727594

rs794727594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,714,215. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 6:129714215
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy|LAMA2-related 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.