Variant (rsID / SNP)
rs141988342
rs141988342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,453,955. 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
- 6:112453955
- Cytoband
- 6q21
- HGVS
- NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
- Allele change
- Synonymous_G1278G
Associated conditions / phenotypes
Dilated cardiomyopathy 1JJ|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
