chr11:17409536:A>C Detail (hg19) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,536-17,409,536
hg38 chr11:17,387,989-17,387,989 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.103T>G NP_000516.3:p.Phe35Val
NM_001166290.1:c.-16-143T>G
Ensemble ENST00000682350.1:c.-16-143T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val) AND Permanent neonatal diabetes mellitus 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
rs193929333 dbSNP
Genome
hg19
Position
chr11:17,409,536-17,409,536
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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