NM_015065.3(EXPH5):c.357G>A (p.Met119Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004622987.1
Allele description [Variation Report for NM_015065.3(EXPH5):c.357G>A (p.Met119Ile)]
NM_015065.3(EXPH5):c.357G>A (p.Met119Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Homo sapiens nucleolar protein 8 (NOL8), transcript variant X8, mRNA
PREDICTED: Homo sapiens nucleolar protein 8 (NOL8), transcript variant X8, mRNAgi|2462625211|ref|XM_054363211.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024