Variant #0000933302 (NC_000016.9:g.9862850G>A, NM_000833.3:c.2453C>T (GRIN2A))

Individual ID 00436389
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.9862850G>A
DNA change (hg38) g.9768993G>A
Published as -
ISCN -
DB-ID GRIN2A_000224 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Pietro Palumbo
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Pietro Palumbo
Date created 2023-09-06 14:43:26 +02:00 (CEST)
Date last edited 2023-09-07 16:27:06 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIN2A NM_000833.3 +?/. - c.2453C>T r.(?) p.(Ala818Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000437871 DNA SEQ-NG Blood - GRIN2A 1 Pietro Palumbo


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