chr11:17387937:T>C Detail (hg38) (KCNJ11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,409,484-17,409,484 View the variant detail on this assembly version. |
hg38 | chr11:17,387,937-17,387,937 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000525.3:c.155A>G | NP_000516.3:p.Gln52Arg |
NM_001166290.1:c.-16-91A>G | ||
Ensemble | ENST00000339994.5:c.155A>G | ENST00000339994.5:p.Gln52Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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
Descrption | Source | Links |
---|---|---|
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) 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
- rs193929337 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,937-17,387,937
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser