Variant (rsID / SNP)

rs189360899

rs189360899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,835,530. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:129835530
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu)
Allele change: Missense_V3001L

Associated conditions / phenotypes

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

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.