Variant (rsID / SNP)
rs137853197
rs137853197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEXN. Location: chromosome 1, position 78,408,441. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NEXNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:78408441
- Cytoband
- 1p31.1
- HGVS
- NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
- Allele change
- Missense_Y652C
Associated conditions / phenotypes
Dilated cardiomyopathy 1CC|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy 20|Dilated cardiomyopathy 1CC|Cardiovascular phenotype|Dilated cardiomyopathy 1S|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.