NM_002693.3(POLG):c.2254C>T (p.Leu752=) AND POLG-Related Spectrum Disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000275068.13
Allele description [Variation Report for NM_002693.3(POLG):c.2254C>T (p.Leu752=)]
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
Condition(s)
- Name:
- POLG-Related Spectrum Disorders
- Identifiers:
- MedGen: C4763519
-
Profile neighbors for GEO Profiles (Select 39980025) (200)
GEO Profiles
-
EC2CAA21CC10.b1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA ...
EC2CAA21CC10.b1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr21F19 3', mRNA sequencegi|45896364|gnl|dbEST|22216857|gb|C 68.1|Nucleotide
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Last Updated: Oct 20, 2024