chr11:17418477:C>T Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,418,477-17,418,477
hg38 chr11:17,396,930-17,396,930 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.4108G>A NP_001274103.1:p.Ala1370Thr
NM_000352.4:c.4105G>A NP_000343.2:p.Ala1369Thr
Ensemble ENST00000644772.1:c.4171G>A ENST00000644772.1:p.Ala1391Thr
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 Likely benign
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
Likely benign 2022-12-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.021 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.133 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.060 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.009 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.060 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or... BeFree 17342155 Detail
0.021 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.149 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently ass... BeFree 17259403 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increas... BeFree 22187380 Detail
0.095 hypoglycemia ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfony... BeFree 21142918 Detail
<0.001 thyrotoxicosis We examined the ABCC8 gene at the single nucleotide level using PCR-restriction ... BeFree 25143473 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr) AND not provided ClinVar Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD&... DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 ... DisGeNET Detail
The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity... DisGeNET Detail
ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfonylureas. DisGeNET Detail
We examined the ABCC8 gene at the single nucleotide level using PCR-restriction fragment length poly... 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
-
Genome
hg19
Position
chr11:17,418,477-17,418,477
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8602
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)
121110
Allele Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
8.25695648583932E-6
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