NM_000466.3(PEX1):c.2926+4A>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491766.1
Allele description [Variation Report for NM_000466.3(PEX1):c.2926+4A>G]
NM_000466.3(PEX1):c.2926+4A>G
Condition(s)
- Name:
- Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
- Synonyms:
- Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
- Identifiers:
- MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100
-
putative phosphotransferase enzyme [Salmonella enterica subsp. enterica serovar ...
putative phosphotransferase enzyme [Salmonella enterica subsp. enterica serovar Gallinarum/Pullorum str. CDC1983-67]gi|537373651|gnl|grchu|SPUCDC_1424| U64294.1|Protein
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Last Updated: Sep 29, 2024