chr11:17482160:C>T Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,482,160-17,482,160
hg38 chr11:17,460,613-17,460,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.886G>A NP_001274103.1:p.Gly296Arg
NM_000352.4:c.886G>A NP_000343.2:p.Gly296Arg
Ensemble ENST00000646902.1:c.883G>A ENST00000646902.1:p.Gly295Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600509 OMIM
HGNC 59 HGNC
Ensembl ENSG00000006071 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-02-02 criteria provided, single submitter not specified germline Detail
Uncertain significance 2020-01-22 criteria provided, single submitter Monogenic diabetes germline Detail
Uncertain significance 2020-09-16 no assertion criteria provided Hereditary hyperinsulinism germline Detail
Uncertain significance 2021-11-16 criteria provided, single submitter Hyperinsulinemic hypoglycemia, familial, 1 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Neonatal diabetes mellitus NA CLINVAR Detail
0.009 Diabetes Here, we report a case of diabetes in a 7-mo old child with compound heterozygou... BeFree 22562119 Detail
0.021 diabetes mellitus Here, we report a case of diabetes in a 7-mo old child with compound heterozygou... BeFree 22562119 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND not specified ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Monogenic diabetes ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hereditary hyperinsulinism ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hyperinsulinemic hypoglycemia, familial, 1 ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions ClinVar Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8... DisGeNET Detail
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs148529020 dbSNP
Genome
hg19
Position
chr11:17,482,160-17,482,160
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120484
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.29985724245543E-6
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