NM_000277.3(PAH):c.1153del (p.Leu385fs) AND Phenylketonuria
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000704392.5
Allele description [Variation Report for NM_000277.3(PAH):c.1153del (p.Leu385fs)]
NM_000277.3(PAH):c.1153del (p.Leu385fs)
Condition(s)
-
KPT-276 [Supplementary Concept]
KPT-276 [Supplementary Concept]a selective inhibitor of nuclear export; inhibits both the XPO1 gene and the CRM1 protein<br/>Date introduced: March 6, 2014<br/>MeSH
-
C586831 (1)
MeSH
-
RecName: Full=Regenerating islet-derived protein 4; Short=REG-4; AltName: Full=G...
RecName: Full=Regenerating islet-derived protein 4; Short=REG-4; AltName: Full=Gastrointestinal secretory protein; AltName: Full=REG-like protein; AltName: Full=Regenerating islet-derived protein IV; Short=Reg IV; Flags: Precursorgi|68565834|sp|Q9BYZ8.1|REG4_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024