Variant #0000497970 (NC_000011.9:g.17485151del, ABCC8(NM_000352.3):c.415del)

Individual ID 00244688
Chromosome 11
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.17485151del
DNA change (hg38) g.17463604del
Published as -
ISCN -
DB-ID ABCC8_000387
Variant remarks -
Reference De Franco et al 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Thomas Laver
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 +/. 4 c.415del r.(?) p.(Leu139Cysfs*38)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245800 DNA SEQ - - ABCC8 1 Thomas Laver