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Variant (rsID / SNP)

rs121913572

LAMA2

rs121913572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,802,567. 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
6:129802567
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
Allele change
Nonsense_R2578X

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy|Merosin deficient congenital muscular dystrophy|Muscular dystrophy, limb-girdle, autosomal recessive 23|LAMA2-related muscular dystrophy|Congenital Muscular Dystrophy, LAMA2-related|Muscular dystrophy, limb-girdle, autosomal recessive 23

Public references

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