NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000593641.4
Allele description [Variation Report for NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)]
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Nephrons
NephronsThe functional units of the kidney, consisting of the glomerulus and the attached tubule.<br/>Year introduced: 1979(1973)MeSH
-
Kidney Cortex
Kidney CortexThe outer zone of the KIDNEY, beneath the capsule, consisting of KIDNEY GLOMERULUS; KIDNEY TUBULES, DISTAL; and KIDNEY TUBULES, PROXIMAL.<br/>Year introduced: 1974(1973)MeSH
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Last Updated: Dec 30, 2023