chr14:24259087:C>T Detail (hg38) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,728,293-24,728,293 View the variant detail on this assembly version. |
| hg38 | chr14:24,259,087-24,259,087 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.1147G>A | NP_000350.1:p.Val383Met |
| Ensemble | ENST00000206765.11:c.1147G>A | ENST00000206765.11:p.Val383Met |
| ENST00000544573.5:c.-28-699G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-09-21 | criteria provided, multiple submitters, no conflicts | autosomal recessive congenital ichthyosis 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-10-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-08-05 | criteria provided, single submitter | Lamellar ichthyosis |
germline
|
Detail |
|
Likely pathogenic
|
2021-07-10 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely pathogenic
|
2023-12-08 | criteria provided, single submitter | TGM1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Ichthyosis Congenita II | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000359.3(TGM1):c.1147G>A (p.Val383Met) AND Autosomal recessive congenital ichthyosis 1 | ClinVar | Detail |
| NM_000359.3(TGM1):c.1147G>A (p.Val383Met) AND not provided | ClinVar | Detail |
| NM_000359.3(TGM1):c.1147G>A (p.Val383Met) AND Lamellar ichthyosis | ClinVar | Detail |
| NM_000359.3(TGM1):c.1147G>A (p.Val383Met) AND Abnormality of the skin | ClinVar | Detail |
| NM_000359.3(TGM1):c.1147G>A (p.Val383Met) AND TGM1-related disorder | 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
- rs121918722 dbSNP
- Genome
- hg38
- Position
- chr14:24,259,087-24,259,087
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser