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Variant (rsID / SNP)

rs34367843

LAMA2

rs34367843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,794,489. 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
6:129794489
Cytoband
6q22.33
HGVS
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
Allele change
Missense_R2477S

Associated conditions / phenotypes

Merosin deficient congenital muscular dystrophy|LAMA2-related muscular dystrophy|Congenital muscular dystrophy due to partial LAMA2 deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.