NM_152443.3(RDH12):c.302A>T (p.Asp101Val) AND Leber congenital amaurosis 13
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003084200.2
-
Homo sapiens NBPF member 1 (NBPF1), transcript variant 2, mRNA
Homo sapiens NBPF member 1 (NBPF1), transcript variant 2, mRNAgi|2234200190|ref|NM_001405667.2|Nucleotide
-
Homo sapiens NBPF member 1 (NBPF1), transcript variant 5, mRNA
Homo sapiens NBPF member 1 (NBPF1), transcript variant 5, mRNAgi|2234200174|ref|NM_001405670.2|Nucleotide
-
neuroblastoma breakpoint family member 1 isoform 7 [Homo sapiens]
neuroblastoma breakpoint family member 1 isoform 7 [Homo sapiens]gi|2232462106|ref|NP_001392613.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024