Variant (rsID / SNP)

rs201632009

rs201632009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,704,357. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LAMA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:129704357
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
Allele change: Missense_E1684K

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy

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.