NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) AND Landau-Kleffner syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001785255.1
Allele description [Variation Report for NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)]
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)
Condition(s)
-
Pmel premelanosome protein [Mus musculus]
Pmel premelanosome protein [Mus musculus]Gene ID:20431Gene
-
CELF1 CUGBP Elav-like family member 1 [Homo sapiens]
CELF1 CUGBP Elav-like family member 1 [Homo sapiens]Gene ID:10658Gene
-
myb-related protein 306-like [Glycine soja]
myb-related protein 306-like [Glycine soja]gi|1590559108|ref|XP_028179940.1|Protein
-
Brassica napus NAC transcription factor 74-2 (NAC74-2.1) mRNA, complete cds
Brassica napus NAC transcription factor 74-2 (NAC74-2.1) mRNA, complete cdsgi|699059115|gb|KF738274.1|Nucleotide
-
Oryza sativa Japonica Group cDNA, clone: J090095D11, full insert sequence
Oryza sativa Japonica Group cDNA, clone: J090095D11, full insert sequencegi|156765695|dbj|AK289080.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023