NM_001122769.3(LCA5):c.-39T>C AND Leber congenital amaurosis 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000274844.5
Allele description [Variation Report for NM_001122769.3(LCA5):c.-39T>C]
NM_001122769.3(LCA5):c.-39T>C
Condition(s)
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|194390492|dbj|BAG62008.1|Protein
-
Mus musculus 18-day embryo whole body cDNA, RIKEN full-length enriched library, ...
Mus musculus 18-day embryo whole body cDNA, RIKEN full-length enriched library, clone:1110033I20 product:unclassifiable, full insert sequencegi|26096480|dbj|AK075646.1|Nucleotide
-
superoxide dismutase [Cu-Zn] [Rattus norvegicus]
superoxide dismutase [Cu-Zn] [Rattus norvegicus]gi|8394328|ref|NP_058746.1|Protein
-
Human prohibitin gene, 3' untranslated region
Human prohibitin gene, 3' untranslated regiongi|1236562|gb|U49725.1|HSU49725Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023