chr19:41342230:G>A Detail (hg38) (TGFB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,848,135-41,848,135 View the variant detail on this assembly version. |
| hg38 | chr19:41,342,230-41,342,230 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000660.5:c.652C>T | NP_000651.3:p.Arg218Cys |
| Ensemble | ENST00000221930.6:c.652C>T | ENST00000221930.6:p.Arg218Cys |
| ENST00000600196.2:c.652C>T | ENST00000600196.2:p.Arg218Cys |
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
|
2019-05-28 | criteria provided, multiple submitters, no conflicts | Diaphyseal dysplasia |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-09 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-12-21 | criteria provided, single submitter |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.490 | Camurati-Engelmann Syndrome | NA | CLINVAR | Detail | |
| 0.490 | Camurati-Engelmann Syndrome | Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R... | BeFree | 23729546 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND Diaphyseal dysplasia | ClinVar | Detail |
| NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND not provided | ClinVar | Detail |
| NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND See cases | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of ch... | 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
- rs104894721 dbSNP
- Genome
- hg38
- Position
- chr19:41,342,230-41,342,230
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser