Variant (rsID / SNP)
rs74315396
rs74315396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MKKS. Location: chromosome 20, position 10,394,053. Clinical significance in the table: Pathogenic.
Reference-table entries
MKKSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:10394053
- Cytoband
- 20p12.2
- HGVS
- NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
- Allele change
- Missense_Y37C
Associated conditions / phenotypes
McKusick-Kaufman syndrome|Bardet-Biedl syndrome 6|Bardet-biedl syndrome 2/6, digenic|Bardet-Biedl syndrome 6|McKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome|Retinal dystrophy|Inborn genetic diseases|Nephronophthisis|Bardet-Biedl syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.