NM_000287.4(PEX6):c.1234-11del AND Peroxisome biogenesis disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003646802.2
Allele description [Variation Report for NM_000287.4(PEX6):c.1234-11del]
NM_000287.4(PEX6):c.1234-11del
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
-
GAD2 [Mustela lutreola]
GAD2 [Mustela lutreola]Gene ID:131838143Gene
-
LOC107429083 [Ziziphus jujuba]
LOC107429083 [Ziziphus jujuba]Gene ID:107429083Gene
-
LOC107426770 [Ziziphus jujuba]
LOC107426770 [Ziziphus jujuba]Gene ID:107426770Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024