D1211N (p.Asp1211Asn) variant of SETD5 (Q9C0A6)
D1211N (p.Asp1211Asn) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The record also includes structural context.
D1211N (p.Asp1211Asn) variant details
- p.Asp1211Asn
- rs1559496505
- cosmic curated COSV10587
- ClinGen CA351689611
- ClinVar RCV000760257
- Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- ClinVar: Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available