NM_001972.4(ELANE):c.235G>A (p.Ala79Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003282178.2
Allele description [Variation Report for NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)]
NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
RecName: Full=Choriogonadotropin subunit beta 7; Flags: Precursor
RecName: Full=Choriogonadotropin subunit beta 7; Flags: Precursorgi|1027923600|sp|P0DN87.1|CGB7_HUMAProtein
-
Alternative oxidase 1
Alternative oxidase 1gi|75099280|sp|O65000|O65000_CHLREProtein
-
membrane-bound transcription factor site-2 protease [Mus musculus]
membrane-bound transcription factor site-2 protease [Mus musculus]gi|26986629|ref|NP_758511.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024