NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) AND Peroxisome biogenesis disorder 1B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 5, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410249.2
Allele description [Variation Report for NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)]
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)
Condition(s)
-
JGI_XZT54397.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7629018 3'...
JGI_XZT54397.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7629018 3', mRNA sequencegi|57151874|gnl|dbEST|27005179|gb|C 17.1|Nucleotide
-
AL644918 XGC-egg Xenopus tropicalis cDNA clone L1E11b02 5', mRNA sequence
AL644918 XGC-egg Xenopus tropicalis cDNA clone L1E11b02 5', mRNA sequencegi|16797043|gnl|dbEST|10152671|emb| 918.1|Nucleotide
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Last Updated: Dec 24, 2022