chr11:17388087:A>G Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,634-17,409,634 View the variant detail on this assembly version.
hg38 chr11:17,388,087-17,388,087

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.5T>C NP_000516.3:p.Leu2Pro
NM_001166290.1:c.-16-241T>C
Ensemble ENST00000339994.5:c.5T>C ENST00000339994.5:p.Leu2Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 2011-08-18 criteria provided, single submitter Neonatal diabetes mellitus germline Detail
Uncertain significance criteria provided, single submitter Maturity onset diabetes mellitus in young somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.149 Neonatal diabetes mellitus NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) AND Neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) AND Maturity onset diabetes mellitus in young ClinVar Detail
NA 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
rs193922565 dbSNP
Genome
hg38
Position
chr11:17,388,087-17,388,087
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser