View genomic variant #0000000285

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.17452434G>C
Published as -
GERP 5.460
Segregation -
DB-ID ABCC8_000003 See all 2 reported entries
MSCV MSCV_0000285
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ABCC8 00003124 NM_000352.3 0000000285 +/+ c.1744C>G p.(Leu582Val) missense_variant - 12/39 possibly_damaging(0.842) r.(?) tolerated(0.08)
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ClinVar @ MSeqDR

RCVaccession RCV000009676; RCV000009675;
Chromosome 11:17452434..17452434
ClinVar Allele ID 24145
Disease database name and identifier Human Phenotype Ontology:HP:0005978, MedGen:C0011860, OMIM:125853, Orphanet:ORPHA181376, SNOMED CT:44054006|MedGen:C1835887, OMIM:610374
ClinVar preferred disease name Diabetes mellitus type 2|Transient neonatal diabetes mellitus 2
HGVS variant names NC 000011.9:g.17452434G>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600509.0020|UniProtKB (protein):Q09428#VAR 029781
Gene symbol:Gene id. ABCC8:6833
Molecular consequence SO:0001583|missense variant
Allele origin germline
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