Variant (rsID / SNP)

rs121913569

rs121913569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,636,783. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LAMA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:129636783
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
Allele change: Nonsense_Q1240X

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.