Variant #0000040391 (NC_000011.9:g.17483205G>A, ABCC8(NM_000352.3):c.747C>T)

Individual ID 00019911
Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.17483205G>A
DNA change (hg38) g.17461658G>A
Published as Ala249Ala
ISCN -
DB-ID ABCC8_000101
Variant remarks -
Reference PubMed: Gilissen 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 -?/. 5 c.747C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019903 DNA SEQ - - ABCC8 1 Marianne Vos (LOVD-team)