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Variant (rsID / SNP)

rs121913576

LAMA2

rs121913576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,785,589. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMA2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:129785589
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
Allele change
Nonsense_R2383X

Associated conditions / phenotypes

Congenital muscular dystrophy due to partial LAMA2 deficiency|Merosin deficient congenital muscular dystrophy|LAMA2-related muscular dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.