chr11:17387556:T>G Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,103-17,409,103 View the variant detail on this assembly version.
hg38 chr11:17,387,556-17,387,556

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.536A>C NP_000516.3:p.Glu179Ala
NM_001166290.1:c.275A>C NP_001159762.1:p.Glu92Ala
Ensemble ENST00000339994.5:c.536A>C ENST00000339994.5:p.Glu179Ala
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 2013-02-08 criteria provided, single submitter germline Detail
Uncertain significance criteria provided, single submitter somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neonatal insulin-dependent diabetes mellitus NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) AND Neonatal insulin-dependent diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) AND Neonatal hypoglycemia 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
rs587783671 dbSNP
Genome
hg38
Position
chr11:17,387,556-17,387,556
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser