NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000054563.5
Allele description [Variation Report for NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)]
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RAPGEF2 Rap guanine nucleotide exchange factor 2 [Homo sapiens]
RAPGEF2 Rap guanine nucleotide exchange factor 2 [Homo sapiens]Gene ID:9693Gene
-
Gene Links for GEO Profiles (Select 132631347) (1)
Gene
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Last Updated: May 7, 2024