View genomic variant #0000000283

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.17417462G>A
Published as -
GERP 5.060
Segregation -
DB-ID ABCC8_000001 See all 2 reported entries
MSCV MSCV_0000283
dbSNP ID rs137852673
Frequency -
Sources ; clinvar;
Reference 18025464;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 0000000283 +?/+? c.4135C>T p.(Arg1379Cys) missense_variant - 34/39 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000009674; RCV000502425; RCV000009673;
Chromosome 11:17417462..17417462
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 24144
Disease database name and identifier Human Phenotype Ontology:HP:0005978, MedGen:C0011860, OMIM:125853, Orphanet:ORPHA181376, SNOMED CT:44054006|MedGen:C1833104, OMIM:606176, Orphanet:ORPHA99885|MedGen:C1835887, OMIM:610374
ClinVar preferred disease name Diabetes mellitus type 2|Permanent neonatal diabetes mellitus|Transient neonatal diabetes mellitus 2
HGVS variant names NC 000011.9:g.17417462G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600509.0019
Gene symbol:Gene id. ABCC8:6833
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137852673
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000029261;
Chromosome 11:17417462..17417462
ClinVar Allele ID 44279
Disease database name and identifier MedGen:C0158981, Orphanet:ORPHA224, SNOMED CT:49817004
ClinVar preferred disease name Neonatal diabetes mellitus
HGVS variant names NC 000011.9:g.17417462G>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ABCC8:6833
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137852673
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
rs137852673111741746217417462G/T/AOMIM phenotype variantsDIABETES MELLITUS, TRANSIENT NEONATAL, 2
rs137852673111741746217417462G/T/AOMIM phenotype variantsTransient neonatal diabetes mellitus 2
rs137852673111741746217417462G/T/AOMIM phenotype variantsDiabetes mellitus type 2
rs137852673111741746217417462G/T/AOMIM phenotype variantsNeonatal diabetes mellitus
CM067626111741746217417462HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available