NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) AND Seckel syndrome 5
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Mar 18, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490391.13
Allele description [Variation Report for NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)]
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
Condition(s)
-
Mus musculus sosondowah ankyrin repeat domain family member D (Sowahd), mRNA
Mus musculus sosondowah ankyrin repeat domain family member D (Sowahd), mRNAgi|1561368798|ref|NM_173779.4|Nucleotide
-
Plagiorchis sp. 4 AK-2017 isolate PSP4TAK1 28S ribosomal RNA gene, partial seque...
Plagiorchis sp. 4 AK-2017 isolate PSP4TAK1 28S ribosomal RNA gene, partial sequencegi|1169600431|gb|KY513169.1|Nucleotide
-
maturase, partial (chloroplast) [Malus trilobata]
maturase, partial (chloroplast) [Malus trilobata]gi|12025370|gb|AAG45909.1|Protein
-
maturase, partial (chloroplast) [Pyrus elaeagrifolia]
maturase, partial (chloroplast) [Pyrus elaeagrifolia]gi|12025296|gb|AAG45872.1|Protein
-
Homologene neighbors for GEO Profiles (Select 98662973) (0)
GEO Profiles
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000784550 | Genomic Research Center, Shahid Beheshti University of Medical Sciences | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Uncertain significance (Mar 5, 2018) | inherited | clinical testing |
Last Updated: Oct 26, 2024