Genomic variant #0000000283

Chromosome 11
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.17417462G>A
Published as -
GERP 5.060
Segregation -
DB-ID ABCC8_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ABCC8 NM_000352.3 +?/+? c.4135C>T p.(Arg1379Cys) missense_variant - 34/39 probably_damaging(1) r.(?) deleterious(0)


ClinVar @ MSeqDR

0.00003
24144
Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006|MedGen:C1833104,OMIM:606176,Orphanet:ORPHA99885|MedGen:C1835887,OMIM:610374
Diabetes mellitus type 2|Permanent neonatal diabetes mellitus|Transient neonatal diabetes mellitus 2
HGVS variant names NC 000011.9:g.17417462G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600509.0019
Gene symbol:Gene id. ABCC8:6833
SO:0001583|missense variant
1
dbSNP ID 137852673
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

44279
MedGen:C0158981,Orphanet:ORPHA224,SNOMED CT:49817004
Neonatal diabetes mellitus
HGVS variant names NC 000011.9:g.17417462G>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. ABCC8:6833
SO:0001583|missense variant
1
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