NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg) AND Leber congenital amaurosis 8
- Germline classification:
- Uncertain significance (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:
- RCV003455744.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)]
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
Condition(s)
-
Statice salsuginosa (0)
Nucleotide
-
transcription factor bHLH95 [Citrus x clementina]
transcription factor bHLH95 [Citrus x clementina]gi|1350328006|ref|XP_024035248.1|Protein
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Last Updated: Sep 29, 2024