Variant #0000687612 (NC_000016.9:g.10032229C>T, NM_000833.3:c.594G>A (GRIN2A))

Individual ID 00310909
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10032229C>T
DNA change (hg38) g.9938372C>T
Published as -
ISCN -
DB-ID GRIN2A_000197 See all 10 reported entries
Variant remarks copied from GRIN variant database, check paper for 2nd variant
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-13 12:38:57 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIN2A NM_000833.3 +/. - c.594G>A r.(?) p.(Trp198*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312061 DNA SEQ - - GRIN2A 1 Johan den Dunnen


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