Variant #0000222170 (NC_000001.10:g.197073385_197073389dup, NM_018136.4:c.4994_4998dup (ASPM))

Individual ID 00132143
Chromosome 1
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.197073385_197073389dup
DNA change (hg38) g.197104255_197104259dup
Published as 4992_4996dup
ISCN -
DB-ID ASPM_000018 See all 2 reported entries
Variant remarks -
Reference PubMed: Letard 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-24 08:49:22 +02:00 (CEST)
Date last edited 2023-03-07 17:32:05 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASPM NM_018136.4 +?/. - c.4994_4998dup r.(4994_4998dup) p.(Arg1667Ilefs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000132980 DNA SEQ-NG >Peripheral blood leucocytes gene panel ASPM 1 Nathalie Pouvreau


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.