NM_144988.4(ALG14):c.179C>G (p.Ser60Cys) AND Myopathy, epilepsy, and progressive cerebral atrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003343825.1
Allele description [Variation Report for NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)]
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)
Condition(s)
-
Homo sapiens lipase I (LIPI), transcript variant 7, mRNA
Homo sapiens lipase I (LIPI), transcript variant 7, mRNAgi|1829519428|ref|NM_001379566.1|Nucleotide
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Last Updated: Sep 29, 2024