Variant (rsID / SNP)
rs192317605
rs192317605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,588,259. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LAMA2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:129588259
- Cytoband
- 6q22.33
- HGVS
- NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
- Allele change
- Missense_W739C
Associated conditions / phenotypes
LAMA2-related muscular dystrophy|Merosin deficient congenital muscular dystrophy|Congenital muscular dystrophy due to partial LAMA2 deficiency|Muscular dystrophy, limb-girdle, autosomal recessive 23
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.