NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) AND Nephrotic syndrome, type 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000002441.3
Allele description [Variation Report for NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)]
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)
Condition(s)
-
DNA mismatch repair protein Msh6 isoform 3 [Homo sapiens]
DNA mismatch repair protein Msh6 isoform 3 [Homo sapiens]gi|528078300|ref|NP_001268422.1|Protein
-
Spastic ataxia 5
Spastic ataxia 5MedGen
-
C3280977[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 23, 2022