Variant (rsID / SNP)
rs267607277
rs267607277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CALM1. Location: chromosome 14, position 90,870,730. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CALM1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:90870730
- Cytoband
- 14q32.11
- HGVS
- NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
- Allele change
- Missense_N62S
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1|Long QT syndrome 14|Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
