NM_032634.4(PIGO):c.3104G>A (p.Arg1035His) AND Hyperphosphatasia with intellectual disability syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001244935.6
Allele description [Variation Report for NM_032634.4(PIGO):c.3104G>A (p.Arg1035His)]
NM_032634.4(PIGO):c.3104G>A (p.Arg1035His)
Condition(s)
-
protein unc-13 homolog A isoform X3 [Homo sapiens]
protein unc-13 homolog A isoform X3 [Homo sapiens]gi|768001387|ref|XP_011526113.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 7, 2023