NM_080424.4(SP110):c.1480G>A (p.Gly494Arg) AND Hepatic veno-occlusive disease-immunodeficiency syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001986519.6
Allele description [Variation Report for NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)]
NM_080424.4(SP110):c.1480G>A (p.Gly494Arg)
Condition(s)
-
ceramide synthase 3 isoform X2 [Homo sapiens]
ceramide synthase 3 isoform X2 [Homo sapiens]gi|1034590005|ref|XP_016877493.1|Protein
-
Mus musculus tubulin polymerization promoting protein, mRNA (cDNA clone MGC:6567...
Mus musculus tubulin polymerization promoting protein, mRNA (cDNA clone MGC:65675 IMAGE:6837919), complete cdsgi|32493389|gb|BC054803.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024