Variant #0000497956 (NC_000011.9:g.17498269G>A, ABCC8(NM_000352.3):c.55C>T)

Individual ID 00244674
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.17498269G>A
DNA change (hg38) g.17476722G>A
Published as -
ISCN -
DB-ID ABCC8_000406
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) 0 View details
Owner Thomas Laver
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 +/. 1 c.55C>T r.(?) p.(Gln19*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000245786 DNA SEQ - - ABCC8 1 Thomas Laver