chr14:24259950:T>G Detail (hg38) (TGM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:24,729,156-24,729,156 View the variant detail on this assembly version. |
| hg38 | chr14:24,259,950-24,259,950 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000359.2:c.866A>C | NP_000350.1:p.Asn289Thr |
| Ensemble | ENST00000206765.11:c.866A>C | ENST00000206765.11:p.Asn289Thr |
| ENST00000544573.5:c.-28-1562A>C |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | 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 |
|---|---|---|---|---|---|
|
Pathogenic
|
2001-08-01 | no assertion criteria provided | autosomal recessive congenital ichthyosis 1 |
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.866A>C (p.Asn289Thr) AND Autosomal recessive congenital ichthyosis 1 | 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
- rs121918730 dbSNP
- Genome
- hg38
- Position
- chr14:24,259,950-24,259,950
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser