Variant (rsID / SNP)

rs3749878

rs3749878 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,722,425. Clinical significance in the table: Benign.

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Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:129722425
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
Allele change: Synonymous_E1834E

Associated conditions / phenotypes

Congenital muscular dystrophy due to partial LAMA2 deficiency|Merosin deficient congenital muscular dystrophy|LAMA2-related muscular dystrophy|Muscular dystrophy, limb-girdle, autosomal recessive 23

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.