chr2:50145641:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:50,145,641-51,259,699 |
| hg38 | chr2:49,918,503-51,032,561 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Developmental Disabilities | NA | BeFree | Detail | |
| 0.120 | Child Development Disorders, Pervasive | NA | CTD_human | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| <0.001 | Mental Depression | NA | BeFree | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.002 | epilepsy | NA | BeFree | Detail | |
| 0.003 | Atrial Septal Defects | The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were... | BeFree | 24832020 | Detail |
| <0.001 | Language Delay | NA | BeFree | Detail | |
| 0.123 | Language Development Disorders | NA | BeFree,CTD_human,GAD | Detail | |
| 0.003 | Mental Retardation | NA | BeFree,GAD | Detail | |
| <0.001 | Muscle hypotonia | NA | BeFree | Detail | |
| 0.004 | nicotine dependence | NA | BeFree,GAD | Detail | |
| 0.080 | Reperfusion Injury | NA | RGD | Detail | |
| 0.228 | schizophrenia | Identification of candidate single-nucleotide polymorphisms in NRXN1 related to ... | BeFree,CTD_human,GAD,LHGDN,MGD | 24633560 | Detail |
| <0.001 | Seizures | NA | BeFree | Detail | |
| <0.001 | Severe mental retardation (I.Q. 20-34) | NA | BeFree | Detail | |
| 0.005 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Gilles de la Tourette syndrome | NA | BeFree | Detail | |
| <0.001 | Speech delay | NA | BeFree | Detail | |
| <0.001 | idiopathic generalized epilepsy | NA | BeFree | Detail | |
| 0.120 | Craniofacial Abnormalities | NA | CTD_human | Detail | |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | Dysmorphic features | NA | BeFree | Detail | |
| <0.001 | specific language impairment | NA | BeFree | Detail | |
| <0.001 | Autistic behavior | NA | BeFree | Detail | |
| 0.004 | Autism Spectrum Disorders | Mutation screening of the neurexin 1 gene in thai patients with intellectual dis... | BeFree | 24832020 | Detail |
| <0.001 | Neurodevelopmental Disorders | Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with... | BeFree | 24633560 | Detail |
| 0.121 | Pitt-Hopkins syndrome | NA | BeFree,CTD_human | Detail | |
| 0.120 | Schizophrenia 17 | NA | CLINVAR | Detail | |
| 0.122 | intellectual disability | Mutation screening of the neurexin 1 gene in thai patients with intellectual dis... | BeFree,CTD_human | 24832020 | Detail |
| 0.122 | intellectual disability | Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the... | BeFree,CTD_human | 25149956 | Detail |
| 0.002 | Alcoholic Intoxication, Chronic | NA | GAD | Detail | |
| 0.002 | rheumatoid arthritis | NA | GAD | Detail | |
| 0.217 | autistic disorder | Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with... | BeFree,CTD_human,GAD,LHGDN,MGD | 24633560 | Detail |
| 0.217 | autistic disorder | Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the... | BeFree,CTD_human,GAD,LHGDN,MGD | 25149956 | Detail |
| <0.001 | Mental disorders | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| <0.001 | Brain Diseases | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatm... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism s... | DisGeNET | Detail |
| Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism s... | DisGeNET | Detail |
| Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of N... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of... | DisGeNET | Detail |
| Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of N... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- -
- Genome
- hg19
- Position
- chr2:50,145,641-51,259,699
- Variant Type
- snv
Genome browser