Variant (rsID / SNP)
rs199916502
rs199916502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EVC. Location: chromosome 4, position 5,749,917. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
EVCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:5749917
- Cytoband
- 4p16.2
- HGVS
- NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
- Allele change
- Missense_L328F
Associated conditions / phenotypes
Ellis-van Creveld syndrome|Ellis-van Creveld syndrome|Curry-Hall syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.