NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=) AND Landau-Kleffner syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002650500.2
Allele description [Variation Report for NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=)]
NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=)
Condition(s)
-
Chain A, AQUAPORIN 1
Chain A, AQUAPORIN 1gi|20150315|pdb|1J4N|AProtein
-
Homologene neighbors for GEO Profiles (Select 40988183) (0)
GEO Profiles
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Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 2, ...
Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 2, mRNAgi|1889496194|ref|NM_181533.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024