chr11:17491666:A>C Detail (hg19) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,491,666-17,491,666 |
hg38 | chr11:17,470,119-17,470,119 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000352.4:c.394T>G | NP_000343.2:p.Phe132Val |
NM_001287174.1:c.394T>G | NP_001274103.1:p.Phe132Val | |
Ensemble | ENST00000642271.1:c.394T>G | ENST00000642271.1:p.Phe132Val |
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 |
---|---|---|---|---|---|
0.133 | Neonatal diabetes mellitus | NA | CLINVAR | Detail | |
0.484 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail | |
0.120 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | NA | CLINVAR | Detail | |
0.001 | Developmental Delay, Epilepsy, and Neonatal Diabetes | We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patie... | BeFree | 16613899 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) AND Neonatal diabetes mellitus | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patient with severe devel... | 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
- rs80356637 dbSNP
- Genome
- hg19
- Position
- chr11:17,491,666-17,491,666
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser