Variant (rsID / SNP)

rs111695726

rs111695726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,498,947. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:129498947
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
Allele change: Missense_A468G

Associated conditions / phenotypes

Congenital muscular dystrophy due to partial LAMA2 deficiency|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.