NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) AND Leber congenital amaurosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455314.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)]
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
Condition(s)
-
Protocadherin gamma subfamily A, 4 [Mus musculus]
Protocadherin gamma subfamily A, 4 [Mus musculus]gi|29436767|gb|AAH49814.1|Protein
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Last Updated: Sep 29, 2024