NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr) AND Hyperphosphatasia with intellectual disability syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003748589.1
Allele description [Variation Report for NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)]
NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)
Condition(s)
-
Peripheral blood monocyte CD16 + and Cd16- subsets from healthy donors
Peripheral blood monocyte CD16 + and Cd16- subsets from healthy donorsAccession: GDS4219GEO DataSets
-
Related DataSets for GEO Profiles (Select 90518020) (1)
GEO DataSets
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Homologene neighbors for GEO Profiles (Select 67656202) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024