NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003163995.2
Allele description [Variation Report for NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)]
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
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: May 1, 2024