Variant (rsID / SNP)

rs201177178

rs201177178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,498,908. 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: 6:129498908
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln)
Allele change: Missense_R455Q

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy|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.