V140M (p.Val140Met) variant of RAD21 (O60216)
V140M (p.Val140Met) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes published literature.
V140M (p.Val140Met) variant details
- p.Val140Met
- rs1554611589
- ClinGen CA372008062
- ClinVar RCV000623395
- ClinVar RCV004760651
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)