Variant (rsID / SNP)
rs754279998
rs754279998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,285,514. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MKS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:56285514
- Cytoband
- 17q22
- HGVS
- NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
Associated conditions / phenotypes
Joubert syndrome|Joubert syndrome 28|Rotary nystagmus|Global developmental delay|Chronic kidney disease|Limb undergrowth|Polydactyly|Bardet-Biedl syndrome 13|Meckel syndrome, type 1|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|Meckel syndrome, type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.