NM_001972.4(ELANE):c.578G>A (p.Arg193Gln) AND ELANE-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003409362.4
Allele description [Variation Report for NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)]
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)
Condition(s)
- Name:
- ELANE-related disorder
- Synonyms:
- ELANE-related condition
- Identifiers:
-
Tph3p [Saccharomyces cerevisiae S288C]
Tph3p [Saccharomyces cerevisiae S288C]gi|37362668|ref|NP_012518.2|Protein
-
MAG: hypothetical protein CHH17_18850 [Candidatus Fluviicola riflensis]
MAG: hypothetical protein CHH17_18850 [Candidatus Fluviicola riflensis]gi|1229049667|gnl|PRJNA288027|CHH17 0|gb|ASS50746.1|Protein
-
Hcf [Varroa destructor]
Hcf [Varroa destructor]Gene ID:111247306Gene
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Last Updated: Oct 13, 2024