NM_002637.4(PHKA1):c.682A>G (p.Ile228Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002782158.2
Allele description [Variation Report for NM_002637.4(PHKA1):c.682A>G (p.Ile228Val)]
NM_002637.4(PHKA1):c.682A>G (p.Ile228Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
ras-related and estrogen-regulated growth inhibitor isoform 1 [Homo sapiens]
ras-related and estrogen-regulated growth inhibitor isoform 1 [Homo sapiens]gi|14249704|ref|NP_116307.1|Protein
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Last Updated: May 1, 2024