Variant (rsID / SNP)

rs182958473

rs182958473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,475,707. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:129475707
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)
Allele change: Missense_R362I

Associated conditions / phenotypes

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.