chr11:17409490:C>T Detail (hg19) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,490-17,409,490
hg38 chr11:17,387,943-17,387,943 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.149G>A NP_000516.3:p.Arg50Gln
NM_001166290.1:c.-16-97G>A
Ensemble ENST00000339994.5:c.149G>A ENST00000339994.5:p.Arg50Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic criteria provided, single submitter Neonatal diabetes mellitus germline Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-03-09 criteria provided, single submitter permanent neonatal diabetes mellitus germline Detail
Pathogenic 2023-10-30 no assertion criteria provided Diabetes mellitus, permanent neonatal 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.149 Neonatal diabetes mellitus NA CLINVAR Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.201 Seizures Successful transition to sulfonylurea in neonatal diabetes, developmental delay,... BeFree 25678012 Detail
0.002 Developmental Delay, Epilepsy, and Neonatal Diabetes In this study, we present a case of developmental delay, epilepsy and neonatal d... BeFree 25739471 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) AND Neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) AND not provided ClinVar Detail
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND ... DisGeNET Detail
In this study, we present a case of developmental delay, epilepsy and neonatal diabetes (DEND) syndr... 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
rs80356611 dbSNP
Genome
hg19
Position
chr11:17,409,490-17,409,490
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser