NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000408800.2
Allele description [Variation Report for NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)]
NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)
Condition(s)
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Homo sapiens diacylglycerol kinase, eta, mRNA (cDNA clone MGC:44463 IMAGE:529789...
Homo sapiens diacylglycerol kinase, eta, mRNA (cDNA clone MGC:44463 IMAGE:5297895), complete cdsgi|34193288|gb|BC043292.2|Nucleotide
-
Homo sapiens beta-galactose-3-O-sulfotransferase 3 mRNA, complete cds
Homo sapiens beta-galactose-3-O-sulfotransferase 3 mRNA, complete cdsgi|14571497|gb|AY026481.1|Nucleotide
-
Sordariomycetes large subunit ribosomal RNA gene, partial sequence.
Sordariomycetes large subunit ribosomal RNA gene, partial sequence.PopSet: 949173137PopSet
-
ornithine decarboxylase, partial [Cicinnurus regius]
ornithine decarboxylase, partial [Cicinnurus regius]gi|260585300|gb|ACX45544.1|Protein
-
RecName: Full=Small ribosomal subunit protein mS27; AltName: Full=28S ribosomal ...
RecName: Full=Small ribosomal subunit protein mS27; AltName: Full=28S ribosomal protein S27, mitochondrial; Short=MRP-S27; Short=S27mt; AltName: Full=Mitochondrial ribosomal protein S27; Flags: Precursorgi|209572725|sp|Q92552.3|RT27_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024