Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs186538779

LAMA2

rs186538779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,601,216. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LAMA2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:129601216
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
Allele change
Missense_T821A

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy|LAMA2-related muscular dystrophy

Public references

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