Variant (rsID / SNP)

rs2229848

rs2229848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,807,629. Clinical significance in the table: Benign.

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Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:129807629
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
Allele change: Missense_A2587V

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.