chr11:17387916:A>C Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,463-17,409,463 View the variant detail on this assembly version.
hg38 chr11:17,387,916-17,387,916

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.176T>G NP_000516.3:p.Val59Gly
NM_001166290.1:c.-16-70T>G
Ensemble ENST00000339994.5:c.176T>G ENST00000339994.5:p.Val59Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 2004-12-14 no assertion criteria provided Diabetes mellitus, permanent neonatal 2 germline Detail
not provided no assertion provided permanent neonatal diabetes mellitus unknown Detail
Likely 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
0.120 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES NA CLINVAR Detail
0.010 epilepsy Recent studies have shown that heterozygous mutations in KCNJ11, which encodes K... BeFree 16087682 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL By tagging the PNDM Kir6.2 mutant V59G or R201H with an additional mutation, N16... BeFree 16731837 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL Our results also show that mutations in the slide helix of Kir6.2 (V59G) influen... BeFree 15583126 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL We have verified a lack of clinical response for both glycemic control and neuro... BeFree 23382304 Detail
0.149 Neonatal diabetes mellitus Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analo... BeFree 19139106 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) AND Transitory neonatal diabetes mellitus ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-form... DisGeNET Detail
By tagging the PNDM Kir6.2 mutant V59G or R201H with an additional mutation, N160D, that confers vol... DisGeNET Detail
Our results also show that mutations in the slide helix of Kir6.2 (V59G) influence the channel kinet... DisGeNET Detail
We have verified a lack of clinical response for both glycemic control and neurological features in ... DisGeNET Detail
Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G subs... 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
rs80356617 dbSNP
Genome
hg38
Position
chr11:17,387,916-17,387,916
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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