Variant (rsID / SNP)
rs6507992
rs6507992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SKA1. Location: chromosome 18, position 47,908,556. The table records no clinical significance for this variant.
Reference-table entries
SKA1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 18:47908556
- HGVS
- NM_001039535.3,c.271G>A,p.Val91Ile
- Allele change
- Missense_V91I
Associated conditions / phenotypes
Cleft Lip|Cleft Lip/palate|Cleft Palate, Isolated|Cleft Lip with or Without Cleft Palate
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.