NM_013261.5(PPARGC1A):c.1835C>T (p.Thr612Met) AND PPARGC1A-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003976708.1
Allele description [Variation Report for NM_013261.5(PPARGC1A):c.1835C>T (p.Thr612Met)]
NM_013261.5(PPARGC1A):c.1835C>T (p.Thr612Met)
Condition(s)
- Name:
- PPARGC1A-related disorder
- Synonyms:
- PPARGC1A-related condition
- Identifiers:
-
Gene Links for GEO Profiles (Select 115491339) (1)
Gene
-
LEMD2 LEM domain nuclear envelope protein 2 [Homo sapiens]
LEMD2 LEM domain nuclear envelope protein 2 [Homo sapiens]Gene ID:221496Gene
-
RefSeq Protein Links for Gene (Select 315345) (4)
Protein
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See more...Assertion and evidence details
Last Updated: May 19, 2024