NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) AND Leber congenital amaurosis 8
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003454681.3
Allele description [Variation Report for NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)]
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
Condition(s)
-
Tssr9926 AND (alive[prop]) (0)
Gene
-
Gm34952 predicted gene, 34952 [Mus musculus]
Gm34952 predicted gene, 34952 [Mus musculus]Gene ID:102638370Gene
-
Gm34952 AND (alive[prop]) (1)
Gene
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Last Updated: Sep 16, 2024