A382G (p.Ala382Gly) variant of SMC1A (Q14683)
A382G (p.Ala382Gly) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
A382G (p.Ala382Gly) variant details
- p.Ala382Gly
- rs2520969362
- ClinGen CA413131501
- ClinVar RCV003242359
- ClinVar RCV006262760
- Uncertain significance
- Missense
- 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)