NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) AND Microcephaly 5, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003452066.1
Allele description [Variation Report for NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu)]
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu)
Condition(s)
-
Medullary breast carcinoma
Medullary breast carcinomaMedGen
-
C0860580[conceptid] (1)
MedGen
-
RecName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit d...
RecName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform; Short=PI3-kinase subunit delta; Short=PI3K-delta; Short=PI3Kdelta; Short=PtdIns-3-kinase subunit delta; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta; Short=PtdIns-3-kinase subunit p110-delta; Short=p110deltagi|67477424|sp|O00329.2|PK3CD_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024