NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) AND Peroxisome biogenesis disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001996559.3
Allele description [Variation Report for NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys)]
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys)
Condition(s)
- Name:
- Peroxisome biogenesis disorder (PBD, ZSS)
- Synonyms:
- PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE); INFANTILE PHYTANIC ACID STORAGE DISEASE; PEROXISOME BIOGENESIS DISORDER (NALD/IRD); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019234; MedGen: C1832200; OMIM: PS214100
-
hypothetical protein L916_00912 [Phytophthora nicotianae]
hypothetical protein L916_00912 [Phytophthora nicotianae]gi|567999569|gb|ETL49605.1||gnl|WGS |L916_00912T0Protein
-
hypothetical protein L917_00880 [Phytophthora nicotianae]
hypothetical protein L917_00880 [Phytophthora nicotianae]gi|568028787|gb|ETM02723.1||gnl|WGS |L917_00880T0Protein
-
eogt [Oryzias latipes]
eogt [Oryzias latipes]Gene ID:101170339Gene
-
OS9 [Accipiter gentilis]
OS9 [Accipiter gentilis]Gene ID:126037401Gene
-
hisH [Geobacillus thermodenitrificans]
hisH [Geobacillus thermodenitrificans]Gene ID:87622828Gene
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Last Updated: Oct 13, 2024