chr11:17387548:T>C Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,095-17,409,095 View the variant detail on this assembly version.
hg38 chr11:17,387,548-17,387,548

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.544A>G NP_000516.3:p.Ile182Val
NM_001166290.1:c.283A>G NP_001159762.1:p.Ile95Val
Ensemble ENST00000339994.5:c.544A>G ENST00000339994.5:p.Ile182Val
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
not provided no assertion provided permanent neonatal diabetes mellitus unknown Detail
Benign criteria provided, single submitter Transitory neonatal diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.149 Neonatal diabetes mellitus Here we characterize the channel properties of Kir6.2 mutations that underlie tr... BeFree 16123353 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) AND Transitory neonatal diabetes mellitus ClinVar Detail
NA DisGeNET Detail
Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal dia... 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
rs193929348 dbSNP
Genome
hg38
Position
chr11:17,387,548-17,387,548
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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