Variant (rsID / SNP)
rs267607581
rs267607581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,107,442. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LMNAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156107442
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1609-3C>G
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Primary familial hypertrophic cardiomyopathy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
