NM_000466.3(PEX1):c.1891del (p.Ala631fs) AND Heimler syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475247.1
Allele description [Variation Report for NM_000466.3(PEX1):c.1891del (p.Ala631fs)]
NM_000466.3(PEX1):c.1891del (p.Ala631fs)
Condition(s)
-
PREDICTED: Xenopus laevis caspase recruitment domain family member 11 L homeolog...
PREDICTED: Xenopus laevis caspase recruitment domain family member 11 L homeolog (card11.L), transcript variant X1, mRNAgi|2038309456|ref|XM_018236247.2|Nucleotide
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Taxonomy Links for Nucleotide (Select 2739439829) (1)
Taxonomy
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Last Updated: Sep 29, 2024