chr11:17408675:C>T Detail (hg19) (KCNJ11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,408,675-17,408,675 |
hg38 | chr11:17,387,128-17,387,128 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001166290.1:c.703G>A | NP_001159762.1:p.Glu235Lys |
NM_000525.3:c.964G>A | NP_000516.3:p.Glu322Lys | |
Ensemble | ENST00000528731.1:c.703G>A | ENST00000528731.1:p.Glu235Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | permanent neonatal diabetes mellitus |
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Detail | |
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2013-02-08 | criteria provided, single submitter | diabetes mellitus |
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Detail |
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criteria provided, single submitter | Transitory neonatal diabetes mellitus |
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Detail | |
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2023-07-08 | criteria provided, single submitter | not provided |
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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
Descrption | Source | Links |
---|---|---|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Transitory neonatal diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND not provided | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs193929355 dbSNP
- Genome
- hg19
- Position
- chr11:17,408,675-17,408,675
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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