Variant (rsID / SNP)

rs117781224

rs117781224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,687,396. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:129687396
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
Allele change: Missense_G1584S

Associated conditions / phenotypes

LAMA2-related muscular dystrophy|Congenital muscular dystrophy due to partial LAMA2 deficiency

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.