K313N (p.Lys313Asn) variant of MITF (O75030)
K313N (p.Lys313Asn) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; W. The record also includes published literature and structural context.
K313N (p.Lys313Asn) variant details
- p.Lys313Asn
- rs1057519325
- ClinGen CA16044010
- ClinVar RCV000416286
- ClinVar RCV000416300
- Pathogenic
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; W
- Missense
- ClinVar: Pathogenic (Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism,)
- EBI: Pathogenic (in COMMAD)
- UniProt: Pathogenic (in COMMAD)
- Structural context available
- Cited in: Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (PMID 27889061)