P1243R (p.Pro1243Arg) variant of MYO7A (Unconventional myosin-VIIa)
P1243R (p.Pro1243Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 2; Hearing loss, autosomal recessi. The record also includes published literature and structural context.
P1243R (p.Pro1243Arg) variant details
- p.Pro1243Arg
- rs750358148
- ClinGen CA381947301
- ClinVar RCV000681546
- ClinVar RCV001291097
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 2; Hearing loss, autosomal recessi
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 2; Hearing loss, a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)