chr11:17417194:T>C Detail (hg19) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,417,194-17,417,194 |
hg38 | chr11:17,395,647-17,395,647 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001287174.1:c.4273A>G | NP_001274103.1:p.Ile1425Val |
NM_000352.4:c.4270A>G | NP_000343.2:p.Ile1424Val | |
Ensemble | ENST00000683136.1:c.4153A>G | ENST00000683136.1:p.Ile1385Val |
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 |
---|---|---|---|---|---|
0.484 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) AND Diabetes mellitus, permanent neonatal 3 | 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
- rs80356653 dbSNP
- Genome
- hg19
- Position
- chr11:17,417,194-17,417,194
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser