NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter) AND Heimler syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476751.1
Allele description [Variation Report for NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)]
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
Condition(s)
-
NP_067494 (0)
GEO DataSets
-
Homo sapiens LLGL1, scribble cell polarity complex component (LLGL1), mRNA
Homo sapiens LLGL1, scribble cell polarity complex component (LLGL1), mRNAgi|62912475|ref|NM_004140.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024