chr11:17387571:G>C Detail (hg38) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,118-17,409,118 View the variant detail on this assembly version. |
| hg38 | chr11:17,387,571-17,387,571 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.521C>G | NP_000516.3:p.Ala174Gly |
| NM_001166290.1:c.260C>G | NP_001159762.1:p.Ala87Gly | |
| Ensemble | ENST00000339994.5:c.521C>G | ENST00000339994.5:p.Ala174Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2013-02-08 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neonatal insulin-dependent diabetes mellitus | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.521C>G (p.Ala174Gly) AND Neonatal insulin-dependent 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
- rs587783670 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,571-17,387,571
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser