chr11:2160901:G>A Detail (hg38) (INS, INS-IGF2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:2,182,131-2,182,131 View the variant detail on this assembly version. |
hg38 | chr11:2,160,901-2,160,901 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000207.2:c.71C>T | NP_000198.1:p.Ala24Val |
NM_001185097.1:c.71C>T | NP_001172026.1:p.Ala24Val | |
NM_001185098.1:c.71C>T | NP_001172027.1:p.Ala24Val |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042376.2:c.71C>T | NP_001035835.1:p.Ala24Val |
Ensemble | ENST00000397270.1:c.71C>T | ENST00000397270.1:p.Ala24Val |
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 |
Links
Type | Database | ID | Link |
---|---|---|---|
Gene | MIM | 176730 | OMIM |
HGNC | 6081 | HGNC | |
Ensembl | ENSG00000254647 | Ensembl | |
NCBI | NCBI | ||
Gene Cards | Gene Cards | ||
OncoKB | OncoKB |
Type | Database | ID | Link |
---|---|---|---|
Variant | TogoVar | ||
COSMIC | |||
MONDO |
Type | Database | ID | Link |
---|---|---|---|
Gene | MIM | ||
HGNC | 33527 | HGNC | |
Ensembl | ENSG00000129965 | Ensembl | |
NCBI | NCBI | ||
Gene Cards | Gene Cards | ||
OncoKB | OncoKB |
Type | Database | ID | Link |
---|---|---|---|
Variant | TogoVar | ||
COSMIC | |||
MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.007 | insulinoma | We examined the subcellular localization and secretion of 13 neonatal diabetes-a... | BeFree | 20034470 | Detail |
<0.001 | Lesion of brain | In this report we present a family with permanent neonatal diabetes, heterozygou... | BeFree | 25765664 | Detail |
0.568 | DIABETES MELLITUS, PERMANENT NEONATAL | Insulin gene mutations as a cause of permanent neonatal diabetes. | UNIPROT | 17855560 | Detail |
0.007 | Ketosis | In this report we present a family with permanent neonatal diabetes, heterozygou... | BeFree | 25765664 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000207.3(INS):c.71C>T (p.Ala24Val) AND Neonatal diabetes mellitus | ClinVar | Detail |
NM_000207.3(INS):c.71C>T (p.Ala24Val) AND not provided | ClinVar | Detail |
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi... | DisGeNET | Detail |
In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS ge... | DisGeNET | Detail |
Insulin gene mutations as a cause of permanent neonatal diabetes. | DisGeNET | Detail |
In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS ge... | 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
- rs80356663 dbSNP
- Genome
- hg38
- Position
- chr11:2,160,901-2,160,901
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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