Variant (rsID / SNP)
rs386834044
rs386834044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,283,862. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MKS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:56283862
- Cytoband
- 17q22
- HGVS
- NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
Associated conditions / phenotypes
Meckel syndrome, type 1|Joubert syndrome|MKS1-Related Disorders|Joubert syndrome 28|Bardet-Biedl syndrome 13|Joubert syndrome|Meckel-Gruber syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.