chr11:17387934:C>T Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,481-17,409,481 View the variant detail on this assembly version.
hg38 chr11:17,387,934-17,387,934

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.158G>A NP_000516.3:p.Gly53Asp
NM_001166290.1:c.-16-88G>A
Ensemble ENST00000339994.5:c.158G>A ENST00000339994.5:p.Gly53Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-03-01 no assertion criteria provided Diabetes mellitus, permanent neonatal 2 germline Detail
not provided no assertion provided permanent neonatal diabetes mellitus unknown Detail
Benign criteria provided, single submitter somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.120 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES NA CLINVAR Detail
0.080 Diabetes A 29-year-old male patient was diagnosed with diabetes in the third month of lif... BeFree 21340152 Detail
0.149 Neonatal diabetes mellitus The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and mo... BeFree 18073297 Detail
0.002 Developmental Delay, Epilepsy, and Neonatal Diabetes The objective of the study was to determine the molecular basis of intermediate ... BeFree 18073297 Detail
0.295 diabetes mellitus A 29-year-old male patient was diagnosed with diabetes in the third month of lif... BeFree 21340152 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) AND Neonatal hypoglycemia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identifi... DisGeNET Detail
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in a... DisGeNET Detail
The objective of the study was to determine the molecular basis of intermediate DEND in a 27-yr-old ... DisGeNET Detail
A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identifi... 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
rs80356615 dbSNP
Genome
hg38
Position
chr11:17,387,934-17,387,934
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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