Variant (rsID / SNP)

rs143674727

rs143674727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,641,684. 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: 6:129641684
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.4060A>G (p.Ile1354Val)
Allele change: Missense_I1354V

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.