Variant #0000787106 (NC_000016.9:g.(?_4847461)_(4848668_?)delinsCAG, NC_000016.9(NM_024589.1):c.432+462_*145delinsCAG (ROGDI))

Individual ID 00374561
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_4847461)_(4848668_?)delinsCAG
DNA change (hg38) -
Published as chr16:4847461?_4848668+?delinsCAG
ISCN -
DB-ID ROGDI_000029
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
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 2021-05-24 20:06:48 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ROGDI NM_024589.1 +?/. 6i_11 c.432+462_*145delinsCAG r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375755 DNA SEQ-NG - TruSight One panel ROGDI 2 Johan den Dunnen


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