Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121913574

LAMA2

rs121913574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,511,462. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LAMA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:129511462
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)
Allele change
Missense_C527Y

Associated conditions / phenotypes

Congenital muscular dystrophy due to partial LAMA2 deficiency|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.