chr11:17404525:G>A Detail (hg38) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,426,072-17,426,072 View the variant detail on this assembly version. |
hg38 | chr11:17,404,525-17,404,525 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001287174.1:c.3547C>T | NP_001274103.1:p.Arg1183Trp |
NM_000352.4:c.3544C>T | NP_000343.2:p.Arg1182Trp | |
Ensemble | ENST00000302539.9:c.3547C>T | ENST00000302539.9:p.Arg1183Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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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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2014-11-24 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2 |
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Detail |
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2020-11-15 | no assertion criteria provided | type 2 diabetes mellitus |
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Detail |
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criteria provided, single submitter | Neonatal diabetes mellitus |
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Detail | |
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2021-07-26 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,type 2 diabetes mellitus,Leucine-induced hypoglycemia,Diabetes mellitus, permanent neonatal 3 |
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Detail |
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2021-07-26 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,type 2 diabetes mellitus,Leucine-induced hypoglycemia,Diabetes mellitus, permanent neonatal 3 |
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Detail |
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2021-07-26 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,type 2 diabetes mellitus,Leucine-induced hypoglycemia,Diabetes mellitus, permanent neonatal 3 |
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Detail |
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2021-07-26 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,type 2 diabetes mellitus,Leucine-induced hypoglycemia,Diabetes mellitus, permanent neonatal 3 |
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Detail |
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2021-07-26 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,type 2 diabetes mellitus,Leucine-induced hypoglycemia,Diabetes mellitus, permanent neonatal 3 |
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Detail |
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2023-08-16 | criteria provided, single submitter | not provided |
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Detail |
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2024-01-12 | criteria provided, single submitter | Familial hyperinsulinism |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND Diabetes mellitus, transient neonatal, 2 | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND Type 2 diabetes mellitus | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND Neonatal diabetes mellitus | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND not provided | ClinVar | Detail |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND Familial hyperinsulinism | ClinVar | Detail |
NA | 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 |
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- Gene
- -
- dbSNP
- rs797045209 dbSNP
- Genome
- hg38
- Position
- chr11:17,404,525-17,404,525
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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