NM_017739.4(POMGNT1):c.1442T>A (p.Met481Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002941325.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1442T>A (p.Met481Lys)]
NM_017739.4(POMGNT1):c.1442T>A (p.Met481Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
protein phosphatase 1B isoform 1 [Homo sapiens]
protein phosphatase 1B isoform 1 [Homo sapiens]gi|4505995|ref|NP_002697.1|Protein
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Last Updated: May 1, 2024