Q67H (p.Gln67His) variant of ADNP (Q9H2P0)
Q67H (p.Gln67His) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The record also includes published literature and structural context.
Q67H (p.Gln67His) variant details
- p.Gln67His
- rs1555812161
- ClinGen CA408981383
- ClinVar RCV000622881
- ClinVar RCV001265428
- Likely pathogenic
- Inborn genetic diseases
- Missense
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)