NM_000287.4(PEX6):c.315G>A (p.Trp105Ter) AND Heimler syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475446.1
Allele description [Variation Report for NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)]
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
Condition(s)
-
Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNA
Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNAgi|31981201|ref|NM_021567.2|Nucleotide
-
UI-E-EJ0-ail-e-16-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ail-e-16-0-U...
UI-E-EJ0-ail-e-16-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ail-e-16-0-UI 3', mRNA sequencegi|18991014|gnl|dbEST|11262051|gb|B 18.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024