NM_016341.4(PLCE1):c.6226A>G (p.Arg2076Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004651140.1
Allele description [Variation Report for NM_016341.4(PLCE1):c.6226A>G (p.Arg2076Gly)]
NM_016341.4(PLCE1):c.6226A>G (p.Arg2076Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Danio rerio adenosine monophosphate deaminase 3b (ampd3b), transcript...
PREDICTED: Danio rerio adenosine monophosphate deaminase 3b (ampd3b), transcript variant X1, mRNAgi|2800561278|ref|XM_005159053.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024