chr14:24259744:C>A Detail (hg38) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,728,950-24,728,950 View the variant detail on this assembly version. |
| hg38 | chr14:24,259,744-24,259,744 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.944G>T | NP_000350.1:p.Arg315Leu |
| Ensemble | ENST00000206765.11:c.944G>T | ENST00000206765.11:p.Arg315Leu |
| ENST00000544573.5:c.-28-1356G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
2023-07-01 | criteria provided, multiple submitters, no conflicts | autosomal recessive congenital ichthyosis 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-05 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2024-02-27 | 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.944G>T (p.Arg315Leu) AND Autosomal recessive congenital ichthyosis 1 | ClinVar | Detail |
| NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) AND not provided | ClinVar | Detail |
| NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) 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
- rs143473912 dbSNP
- Genome
- hg38
- Position
- chr14:24,259,744-24,259,744
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7484
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 98700
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.0658561296859166E-5
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