Variant (rsID / SNP)
rs6428677
rs6428677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2, VANGL1. Location: chromosome 1, position 116,240,026. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CASQ2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:116240026
- Cytoband
- 1p13.1
- HGVS
- NM_138959.3(VANGL1):c.*6026G>A
- Allele change
- Silent
Associated conditions / phenotypes
Neural tube defect|Sacral defect with anterior meningocele|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.