NM_001143962.2(CAPN8):c.1088G>A (p.Gly363Asp) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004427017.1
Allele description [Variation Report for NM_001143962.2(CAPN8):c.1088G>A (p.Gly363Asp)]
NM_001143962.2(CAPN8):c.1088G>A (p.Gly363Asp)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homologene neighbors for GEO Profiles (Select 33655577) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 33682747) (200)
GEO Profiles
-
Gene Links for GEO Profiles (Select 33659340) (1)
Gene
-
G6PC3 glucose-6-phosphatase catalytic subunit 3 [Homo sapiens]
G6PC3 glucose-6-phosphatase catalytic subunit 3 [Homo sapiens]Gene ID:92579Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024