NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230169.3
Allele description
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln)
Condition(s)
- Name:
- Joubert syndrome (JBTS)
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Familial aplasia of the vermis; Agenesis of cerebellar vermis; See all synonyms [MedGen]
- Identifiers:
- MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335
- Name:
- Meckel-Gruber syndrome
- Synonyms:
- DYSENCEPHALIA SPLANCHNOCYSTICA
- Identifiers:
- MedGen: C0265215; OMIM: PS249000
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
tt41d02.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2243331 3', mRNA sequence
tt41d02.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:2243331 3', mRNA sequencegi|4739888|gnl|dbEST|2484553|gb|AI6 .1|Nucleotide
-
Homo sapiens isolate 086-013 SPANX-A2 (SPANXA2) gene, complete cds
Homo sapiens isolate 086-013 SPANX-A2 (SPANXA2) gene, complete cdsgi|126013203|gb|DQ994210.1|Nucleotide
-
LOC110121358 [Homo sapiens]
LOC110121358 [Homo sapiens]Gene ID:110121358Gene
-
BWV06_gp128 [Cynomolgus cytomegalovirus]
BWV06_gp128 [Cynomolgus cytomegalovirus]Gene ID:30855140Gene
-
MPO myeloperoxidase [Homo sapiens]
MPO myeloperoxidase [Homo sapiens]Gene ID:4353Gene
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See more...Assertion and evidence details
Last Updated: Nov 2, 2019