Variant #0000046987 (NC_000009.11:g.140055876G>A, NC_000009.11(NM_007327.3):c.1467+8G>A (GRIN1))

Individual ID 00024276
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.140055876G>A
DNA change (hg38) g.137161424G>A
Published as -
ISCN -
DB-ID GRIN1_000013 See all 4 reported entries
Variant remarks -
Reference PubMed: Hamdan 2011
ClinVar ID -
dbSNP ID rs10747050
Origin Unknown
Segregation -
Frequency 1/50 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.93677 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-11-15 10:49:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIN1 NM_007327.3 -/. i c.1467+8G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024268 DNA SEQ - - CACNG2, EPB41L1, GRIN1, KIF1A 98 Johan den Dunnen


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