chr14:24727852:C>A Detail (hg19) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,727,852-24,727,852 |
| hg38 | chr14:24,258,646-24,258,646 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.1187G>T | NP_000350.1:p.Arg396Leu |
| Ensemble | ENST00000206765.11:c.1187G>T | ENST00000206765.11:p.Arg396Leu |
| ENST00000544573.5:c.-28-258G>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
ichthyosis, congenital, autosomal recessive |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
criteria provided, single submitter | autosomal recessive congenital ichthyosis 1 |
germline
unknown
|
Detail | |
|
Pathogenic
Likely pathogenic
|
2023-03-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Ichthyosis Congenita II | NA | CLINVAR | Detail | |
| 0.325 | Congenital ichthyosis | Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: priva... | UNIPROT | 9326318 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) AND Autosomal recessive congenital ichthyosis 1 | ClinVar | Detail |
| NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mut... | 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
- rs121918721 dbSNP
- Genome
- hg19
- Position
- chr14:24,727,852-24,727,852
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121086
- Allele Counts in All Race (ExAC)
- 8
- Heterozygous Counts in All Race (ExAC)
- 8
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.606874452868209E-5
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