chr14:24262072:C>T Detail (hg38) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,731,278-24,731,278 View the variant detail on this assembly version. |
| hg38 | chr14:24,262,072-24,262,072 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.281G>A | NP_000350.1:p.Gly94Asp |
| Ensemble | ENST00000206765.11:c.281G>A | ENST00000206765.11:p.Gly94Asp |
| ENST00000544573.5:c.-29+55G>A |
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 |
|---|---|---|---|---|---|
Uncertain significance
|
2019-04-27 | criteria provided, multiple submitters, no conflicts | autosomal recessive congenital ichthyosis 1 |
germline
inherited
unknown
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-29 | criteria provided, conflicting interpretations | 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 gene mutations in autosomal recessive congenital ichthyosis: ... | UNIPROT | 19241467 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) AND Autosomal recessive congenital ichthyosis 1 | ClinVar | Detail |
| NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations... | 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
- rs121918729 dbSNP
- Genome
- hg38
- Position
- chr14:24,262,072-24,262,072
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8594
- 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)
- 119624
- Allele Counts in All Race (ExAC)
- 28
- Heterozygous Counts in All Race (ExAC)
- 28
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.3406674245970708E-4
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