chr11:17387686:G>A Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,233-17,409,233 View the variant detail on this assembly version.
hg38 chr11:17,387,686-17,387,686

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.406C>T NP_000516.3:p.Arg136Cys
NM_001166290.1:c.145C>T NP_001159762.1:p.Arg49Cys
Ensemble ENST00000339994.5:c.406C>T ENST00000339994.5:p.Arg136Cys
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600937 OMIM
HGNC 6257 HGNC
Ensembl ENSG00000187486 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41765668 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-03-01 criteria provided, single submitter Hyperinsulinemic hypoglycemia, familial, 2 germline Detail
Likely pathogenic 2021-10-08 criteria provided, single submitter maturity-onset diabetes of the young type 13,Hyperinsulinemic hypoglycemia, familial, 2,Diabetes mellitus, transient neonatal, 3,Diabetes mellitus, permanent neonatal 2,type 2 diabetes mellitus unknown Detail
Likely pathogenic 2021-10-08 criteria provided, single submitter maturity-onset diabetes of the young type 13,Hyperinsulinemic hypoglycemia, familial, 2,Diabetes mellitus, transient neonatal, 3,Diabetes mellitus, permanent neonatal 2,type 2 diabetes mellitus unknown Detail
Likely pathogenic 2021-10-08 criteria provided, single submitter maturity-onset diabetes of the young type 13,Hyperinsulinemic hypoglycemia, familial, 2,Diabetes mellitus, transient neonatal, 3,Diabetes mellitus, permanent neonatal 2,type 2 diabetes mellitus unknown Detail
Likely pathogenic 2021-10-08 criteria provided, single submitter maturity-onset diabetes of the young type 13,Hyperinsulinemic hypoglycemia, familial, 2,Diabetes mellitus, transient neonatal, 3,Diabetes mellitus, permanent neonatal 2,type 2 diabetes mellitus unknown Detail
Likely pathogenic 2021-10-08 criteria provided, single submitter maturity-onset diabetes of the young type 13,Hyperinsulinemic hypoglycemia, familial, 2,Diabetes mellitus, transient neonatal, 3,Diabetes mellitus, permanent neonatal 2,type 2 diabetes mellitus unknown Detail
Pathogenic 2023-12-21 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND Hyperinsulinemic hypoglycemia, familial, 2 ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND multiple conditions ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND multiple conditions ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND multiple conditions ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND multiple conditions ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND multiple conditions ClinVar Detail
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND not provided ClinVar 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
rs766891274 dbSNP
Genome
hg38
Position
chr11:17,387,686-17,387,686
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8634
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)
120752
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)
8.281436332317477E-6
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