Variant #0000250495 (NC_000011.9:g.17483314A>G, ABCC8(NM_000352.3):c.638T>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17483314A>G
DNA change (hg38) g.17461767A>G
Published as ABCC8(NM_001287174.1):c.638T>C (p.L213P)
ISCN -
DB-ID ABCC8_000158
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 +?/. - c.638T>C r.(?) p.(Leu213Pro)