Variant #0000687497 (NC_000016.9:g.10032375_10032378delinsN[69], NM_000833.3:c.445_448delins(69) (GRIN2A))

Individual ID 00310794
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.10032375_10032378delinsN[69]
DNA change (hg38) g.9938518_9938521delinsN[69]
Published as 445_448delGCGTins69
ISCN -
DB-ID GRIN2A_000200
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 2021-12-13 16:51:37 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIN2A NM_000833.3 +/. - c.445_448delins(69) r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311946 DNA SEQ - gene panel GRIN2A 1 Johan den Dunnen


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