NM_018718.3(CEP41):c.1044G>T (p.Leu348=) AND Joubert syndrome 15
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002647459.2
Allele description [Variation Report for NM_018718.3(CEP41):c.1044G>T (p.Leu348=)]
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
Condition(s)
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ATP synthase F0 subunit 8 (mitochondrion) [Saimiri boliviensis]
ATP synthase F0 subunit 8 (mitochondrion) [Saimiri boliviensis]gi|529217521|ref|YP_008379220.1|Protein
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Sugano cDNA library, hippocampus
Sugano cDNA library, hippocampusbiosample
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BioSample links for Nucleotide (Select 52132477) (1)
BioSample
-
Assembly for Nucleotide (Select 1391553828) (1)
Assembly
-
Chromosome neighbors for GEO Profiles (Select 107994806) (17)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024