Genomic variant #0000000285

Chromosome 11
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.17452434G>C
Published as -
GERP 5.460
Segregation -
DB-ID ABCC8_000003
dbSNP ID rs137852674
Frequency -
Sources ; clinVar; Ensembl;
Reference 16885549
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ABCC8 NM_000352.3 +/+ c.1744C>G p.(Leu582Val) missense_variant - 12/39 possibly_damaging(0.842) r.(?) tolerated(0.08)


ClinVar @ MSeqDR

24145
Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006|MedGen:C1835887,OMIM:610374
Diabetes mellitus type 2|Transient neonatal diabetes mellitus 2
HGVS variant names NC 000011.9:g.17452434G>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600509.0020|UniProtKB (protein):Q09428#VAR 029781
Gene symbol:Gene id. ABCC8:6833
SO:0001583|missense variant
1
dbSNP ID 137852674
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs137852674111745243417452434G/COMIM phenotype variantsDIABETES MELLITUS, TRANSIENT NEONATAL, 2
rs137852674111745243417452434G/COMIM phenotype variantsTransient neonatal diabetes mellitus 2
rs137852674111745243417452434G/COMIM phenotype variantsDiabetes mellitus type 2
CM067627111745243417452434HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available