Variant (rsID / SNP)

rs35579821

rs35579821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,691,111. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:129691111
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
Allele change: Synonymous_T1645T

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.