NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr) AND GCNT2-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003971563.1
Allele description [Variation Report for NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr)]
NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr)
Condition(s)
- Name:
- GCNT2-related disorder
- Synonyms:
- GCNT2-related condition
- Identifiers:
-
BRD3 bromodomain containing 3 [Homo sapiens]
BRD3 bromodomain containing 3 [Homo sapiens]Gene ID:8019Gene
-
Gene Links for GEO Profiles (Select 91688424) (1)
Gene
-
Gene Links for Protein (Select 2462594518) (1)
Gene
-
ATP8A1 ATPase phospholipid transporting 8A1 [Homo sapiens]
ATP8A1 ATPase phospholipid transporting 8A1 [Homo sapiens]Gene ID:10396Gene
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Last Updated: May 12, 2024