Variant #0000001344 (NC_000015.9:g.40702997G>A, IVD(NM_002225.3):c.465+1G>A)

Individual ID 00000125
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40702997G>A
DNA change (hg38) g.40410798G>A
Published as Exon 4 +1G>A
ISCN -
DB-ID IVD_000004
Variant remarks -
Reference PubMed: Vockley et al (2000)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ivo F.A.C. Fokkema
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2012-06-15 17:58:21 +02:00 (CEST)
Date last edited 2012-11-27 22:32:35 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IVD NM_002225.3 +/+? 5i c.465+1G>A r.296_465del p.Val99Alafs*5



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000117 DNA;RNA RT-PCR;SEQ - - IVD, PEX10, PEX12 2 Ivo F.A.C. Fokkema