NM_018718.3(CEP41):c.277+16G>C AND Joubert syndrome 15
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002135167.5
Allele description [Variation Report for NM_018718.3(CEP41):c.277+16G>C]
NM_018718.3(CEP41):c.277+16G>C
Condition(s)
-
Conserved Domain Links for Protein (Select 768014458) (4)
Conserved Domains
-
MAG: Euryarchaeota archaeon RBG_13_61_15 RBG_13_scaffold_112259, whole genome sh...
MAG: Euryarchaeota archaeon RBG_13_61_15 RBG_13_scaffold_112259, whole genome shotgun sequencegi|1085051561|gb|MGVX01000004.1||gn :MGVX01|RBG_13_scaffold_112259Nucleotide
-
Protein Links for Conserved Domains (Select 248061) (19667)
Protein
-
1696035[uid] (1)
Taxonomy
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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Last Updated: Feb 28, 2024