NM_001367823.1(ARHGEF18):c.2558C>T (p.Pro853Leu) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002041370.3
Allele description [Variation Report for NM_001367823.1(ARHGEF18):c.2558C>T (p.Pro853Leu)]
NM_001367823.1(ARHGEF18):c.2558C>T (p.Pro853Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
keratin-associated protein 4-2 [Homo sapiens]
keratin-associated protein 4-2 [Homo sapiens]gi|1653961735|ref|NP_149051.2|Protein
-
46,XY ovotesticular disorder of sex development
46,XY ovotesticular disorder of sex developmentMedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024