Variant (rsID / SNP)
rs2279247
rs2279247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,812,566. Clinical significance in the table: Benign.
Reference-table entries
EVCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:5812566
- Cytoband
- 4p16.2
- HGVS
- NM_153717.3(EVC):c.2895-114A>G
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.