Variant (rsID / SNP)

rs369558532

rs369558532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,796,526. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:129796526
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.7440-9G>A
Allele change: Silent

Associated conditions / phenotypes

LAMA2-related 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.