NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) AND Acrodysostosis 2 with or without hormone resistance
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000022936.5
Allele description [Variation Report for NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser)]
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser)
Condition(s)
-
mitogen-activated protein kinase kinase kinase 8 isoform X1 [Homo sapiens]
mitogen-activated protein kinase kinase kinase 8 isoform X1 [Homo sapiens]gi|1034566542|ref|XP_016871199.1|Protein
-
Cpgi3666 AND (alive[prop]) (0)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 10, 2024