NM_000466.3(PEX1):c.357+1G>T AND Heimler syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475275.2
Allele description [Variation Report for NM_000466.3(PEX1):c.357+1G>T]
NM_000466.3(PEX1):c.357+1G>T
Condition(s)
-
peptidase S41 [Elizabethkingia bruuniana]
peptidase S41 [Elizabethkingia bruuniana]gi|1154494965|gnl|PRJNA301708|AYC65 0|gb|AQX86233.1|Protein
-
A1Q1_04591 [Trichosporon asahii var. asahii CBS 2479]
A1Q1_04591 [Trichosporon asahii var. asahii CBS 2479]Gene ID:25988104Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024