NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002308004.2
Allele description [Variation Report for NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)]
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
Condition(s)
-
von Willebrand factor C and EGF domain-containing protein precursor [Homo sapien...
von Willebrand factor C and EGF domain-containing protein precursor [Homo sapiens]gi|114431244|ref|NP_689931.2|Protein
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Last Updated: Dec 24, 2022