chr15:48409513:G>T Detail (hg38) (FBN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:48,701,710-48,701,710 View the variant detail on this assembly version. |
| hg38 | chr15:48,409,513-48,409,513 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000138.4:c.*1477C>A | |
| Ensemble | ENST00000316623.10:c.*1477C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | geleophysic dysplasia |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | acromicric dysplasia |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Ectopia lentis |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Marfan syndrome |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | MASS syndrome |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | stiff skin syndrome |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Weill-Marchesani syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000138.5(FBN1):c.*1477C>A AND Geleophysic dysplasia | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Acromicric dysplasia | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Ectopia lentis | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Marfan syndrome | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Familial thoracic aortic aneurysm and aortic dissection | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND MASS syndrome | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Stiff skin syndrome | ClinVar | Detail |
| NM_000138.5(FBN1):c.*1477C>A AND Weill-Marchesani syndrome | 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
- rs886051233 dbSNP
- Genome
- hg38
- Position
- chr15:48,409,513-48,409,513
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser