NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) AND Complex neurodevelopmental disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265472.1
Allele description [Variation Report for NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)]
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)
Condition(s)
- Name:
- Complex neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0100038; MedGen: C5568766
-
Cotesia sp. BIOUG23001-A12 cytochrome oxidase subunit 1 (COI) gene, partial cds;...
Cotesia sp. BIOUG23001-A12 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1384017925|gnl|uoguelph|GMOCL106 COI-5P|gb|MG446782.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024