Variant (rsID / SNP)

rs35065563

rs35065563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,634,127. 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: 6:129634127
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
Allele change: Missense_N1099S

Associated conditions / phenotypes

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

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.