chr11:17387583:T>C Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,130-17,409,130 View the variant detail on this assembly version.
hg38 chr11:17,387,583-17,387,583

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.509A>G NP_000516.3:p.Lys170Arg
NM_001166290.1:c.248A>G NP_001159762.1:p.Lys83Arg
Ensemble ENST00000339994.5:c.509A>G ENST00000339994.5:p.Lys170Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely risk allele
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
Pathogenic 2005-01-01 no assertion criteria provided Diabetes mellitus, permanent neonatal 2 germline Detail
Likely risk allele criteria provided, single submitter Maturity onset diabetes mellitus in young 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 Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing n... BeFree 17919178 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) AND Maturity onset diabetes mellitus in young ClinVar Detail
NA DisGeNET Detail
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes. 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
rs80356621 dbSNP
Genome
hg38
Position
chr11:17,387,583-17,387,583
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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