Y91C (p.Tyr91Cys) variant of CDKN1C (P49918)
Y91C (p.Tyr91Cys) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
Y91C (p.Tyr91Cys) variant details
- p.Tyr91Cys
- rs2494389471
- ClinGen CA379147132
- ClinVar RCV003329008
- ClinVar RCV005310973
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)