chr11:17470109:A>G Detail (hg38) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,491,656-17,491,656 View the variant detail on this assembly version. |
hg38 | chr11:17,470,109-17,470,109 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001287174.1:c.404T>C | NP_001274103.1:p.Leu135Pro |
NM_000352.4:c.404T>C | NP_000343.2:p.Leu135Pro | |
Ensemble | ENST00000302539.9:c.404T>C | ENST00000302539.9:p.Leu135Pro |
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 |
---|---|---|---|---|---|
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no assertion provided | permanent neonatal diabetes mellitus |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.484 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) 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
- rs193929364 dbSNP
- Genome
- hg38
- Position
- chr11:17,470,109-17,470,109
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser