NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) AND POLG-Related Spectrum Disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003330728.1
Allele description [Variation Report for NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)]
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
Condition(s)
- Name:
- POLG-Related Spectrum Disorders
- Identifiers:
- MedGen: C4763519
-
FTH1P10 AND (alive[prop]) (2)
Gene
-
EXOSC6 AND (alive[prop]) (713)
Gene
-
147923[uid] AND (alive[prop]) (1)
Gene
-
ZNF420 zinc finger protein 420 [Homo sapiens]
ZNF420 zinc finger protein 420 [Homo sapiens]Gene ID:147923Gene
-
ACTR3C AND (alive[prop]) (14)
Gene
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See more...Assertion and evidence details
Last Updated: Jul 23, 2024