Variant (rsID / SNP)
rs373650093
rs373650093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,460,429. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LAMA4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:112460429
- Cytoband
- 6q21
- HGVS
- NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
- Allele change
- Missense_V1059M
Associated conditions / phenotypes
Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1JJ|Premature ventricular contraction
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
