NM_201253.3(CRB1):c.1305A>T (p.Gly435=) AND Leber congenital amaurosis 8
- Germline classification:
- Likely benign (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:
- RCV003455291.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1305A>T (p.Gly435=)]
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
Condition(s)
-
Rattus norvegicus strain BN chromosome 15 CRA_213000034356479, whole genome shot...
Rattus norvegicus strain BN chromosome 15 CRA_213000034356479, whole genome shotgun sequencegi|70520677|gb|AAHX01083117.1||gnl| AHX|CRA_213000034356479Nucleotide
-
Rattus norvegicus SEC14-like lipid binding 5 (Sec14l5), mRNA
Rattus norvegicus SEC14-like lipid binding 5 (Sec14l5), mRNAgi|1409931632|ref|NM_001135710.2|Nucleotide
-
PREDICTED: potassium voltage-gated channel subfamily H member 5 [Chinchilla lani...
PREDICTED: potassium voltage-gated channel subfamily H member 5 [Chinchilla lanigera]gi|533171459|ref|XP_005399216.1|Protein
-
radical S-adenosyl methionine domain-containing protein 1, mitochondrial precurs...
radical S-adenosyl methionine domain-containing protein 1, mitochondrial precursor [Homo sapiens]gi|8922911|ref|NP_060816.1|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024