Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs78880369

LAMA2

rs78880369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,775,355. 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
6:129775355
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
Allele change
Missense_V2210A

Associated conditions / phenotypes

LAMA2-related muscular dystrophy|Congenital muscular dystrophy due to partial LAMA2 deficiency

Public references

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