chr5:72195489:G> Detail (hg38) (MAP1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:71,491,316-71,491,316 |
| hg38 | chr5:72,195,489-72,195,489 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001324255.1:c.2134delG | NP_001311184.1:p.Glu712LysfsTer10 |
| NM_005909.4:c.2134delG | NP_005900.2:p.Glu712LysfsTer10 | |
| Ensemble | ENST00000296755.12:c.2134delG | ENST00000296755.12:p.Glu712LysfsTer10 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Pathogenic; risk factor |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2017-02-20 | no assertion criteria provided | White matter deficit,Cognitive impairment,periventricular nodular heterotopia |
de novo
|
Detail |
|
risk factor
|
2017-02-20 | no assertion criteria provided | White matter deficit,Cognitive impairment,periventricular nodular heterotopia |
de novo
|
Detail |
|
risk factor
|
2017-02-20 | no assertion criteria provided | White matter deficit,Cognitive impairment,periventricular nodular heterotopia |
de novo
|
Detail |
Pathogenic
|
2020-06-29 | no assertion criteria provided | Periventricular nodular heterotopia 9 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005909.5(MAP1B):c.2134del (p.Glu712fs) AND multiple conditions | ClinVar | Detail |
| NM_005909.5(MAP1B):c.2134del (p.Glu712fs) AND multiple conditions | ClinVar | Detail |
| NM_005909.5(MAP1B):c.2134del (p.Glu712fs) AND multiple conditions | ClinVar | Detail |
| NM_005909.5(MAP1B):c.2134del (p.Glu712fs) AND Periventricular nodular heterotopia 9 | ClinVar | 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
- rs1561314246 dbSNP
- Genome
- hg38
- Position
- chr5:72,195,489-72,195,489
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser