chr14:24725217:T>C Detail (hg19) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,725,217-24,725,217 |
| hg38 | chr14:24,256,011-24,256,011 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.1469A>G | NP_000350.1:p.Asp490Gly |
| Ensemble | ENST00000544573.5:c.143A>G | ENST00000544573.5:p.Asp48Gly |
| ENST00000206765.11:c.1469A>G | ENST00000206765.11:p.Asp490Gly |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-06-12 | criteria provided, conflicting interpretations | autosomal recessive congenital ichthyosis 1 |
germline
unknown
|
Detail |
Pathogenic
|
2023-12-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2023-03-03 | criteria provided, single submitter | Lamellar ichthyosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Ichthyosis Congenita II | NA | CLINVAR | Detail | |
| <0.001 | Self-Healing Collodion Baby | In two self-healing collodion baby siblings with markedly diminished epidermal t... | BeFree | 12542526 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) AND Autosomal recessive congenital ichthyosis 1 | ClinVar | Detail |
| NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) AND not provided | ClinVar | Detail |
| NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) AND Lamellar ichthyosis | ClinVar | Detail |
| NA | DisGeNET | Detail |
| In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 ac... | 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
- rs121918724 dbSNP
- Genome
- hg19
- Position
- chr14:24,725,217-24,725,217
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 982
- 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)
- 23402
- 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)
- 2.1365695239723101E-4
Genome browser