Variant #0000543112 (NC_000011.9:g.17409547C>A, ABCC8(NM_000352.3):c.*4991G>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.17409547C>A
DNA change (hg38) g.17388000C>A
Published as KCNJ11(NM_000525.3):c.92G>T (p.(Arg31Leu))
ISCN -
DB-ID ABCC8_000412
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 ?/. - c.*4991G>T r.(=) p.(=)
KCNJ11 NM_000525.3 ?/. - c.92G>T r.(?) p.(Arg31Leu)