chr19:41848114:A>G Detail (hg19) (TGFB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,848,114-41,848,114 |
| hg38 | chr19:41,342,209-41,342,209 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000660.5:c.673T>C | NP_000651.3:p.Cys225Arg |
| Ensemble | ENST00000221930.6:c.673T>C | ENST00000221930.6:p.Cys225Arg |
| ENST00000600196.2:c.673T>C | ENST00000600196.2:p.Cys225Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2001-04-13 | no assertion criteria provided | Diaphyseal dysplasia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.490 | Camurati-Engelmann Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg) AND Diaphyseal dysplasia | ClinVar | 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
- -
- dbSNP
- rs104894719 dbSNP
- Genome
- hg19
- Position
- chr19:41,848,114-41,848,114
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser