NM_001122769.3(LCA5):c.*1316C>T AND Leber congenital amaurosis 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000264667.5
Allele description [Variation Report for NM_001122769.3(LCA5):c.*1316C>T]
NM_001122769.3(LCA5):c.*1316C>T
Condition(s)
-
Gasteranthus wendlandianus voucher Perret & Chautems 9 (G) internal transcribed ...
Gasteranthus wendlandianus voucher Perret & Chautems 9 (G) internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|1102132877|gb|KU991238.1|Nucleotide
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Human DNA sequence from clone RP11-483F11 on chromosome 10, complete sequence
Human DNA sequence from clone RP11-483F11 on chromosome 10, complete sequencegi|6706037|emb|AL133353.6|Nucleotide
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RecName: Full=2-aminoethanethiol dioxygenase; AltName: Full=Cysteamine dioxygena...
RecName: Full=2-aminoethanethiol dioxygenase; AltName: Full=Cysteamine dioxygenasegi|88984114|sp|Q6PDY2.2|AEDO_MOUSEProtein
-
AN2 (7)
OMIM
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Last Updated: Apr 9, 2023