Variant (rsID / SNP)
rs137853105
rs137853105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKS1. Location: chromosome 17, position 56,283,840. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MKS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:56283840
- Cytoband
- 17q22
- HGVS
- NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
- Allele change
- Silent
Associated conditions / phenotypes
Bardet-Biedl syndrome 13|Nystagmus|Polydactyly|Hypotonia|Meckel syndrome, type 1|Bardet-Biedl syndrome 13|Joubert syndrome 28|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 28
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.