NM_000466.3(PEX1):c.2723del (p.Pro908fs) AND Peroxisome biogenesis disorder 1B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000412482.2
Allele description [Variation Report for NM_000466.3(PEX1):c.2723del (p.Pro908fs)]
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
Condition(s)
-
Mus musculus non-SMC condensin II complex, subunit H2 (Ncaph2), transcript varia...
Mus musculus non-SMC condensin II complex, subunit H2 (Ncaph2), transcript variant 2, non-coding RNAgi|2296573813|ref|NR_073376.2|Nucleotide
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Last Updated: Dec 24, 2022