chr18:31595143:T>C Detail (hg38) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,175,106-29,175,106 View the variant detail on this assembly version. |
| hg38 | chr18:31,595,143-31,595,143 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.224T>C | NP_000362.1:p.Leu75Pro |
| Ensemble | ENST00000237014.8:c.224T>C | ENST00000237014.8:p.Leu75Pro |
| ENST00000610404.5:c.128T>C | ENST00000610404.5:p.Leu43Pro |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1997-01-01 | no assertion criteria provided | Familial amyloid neuropathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.488 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000371.4(TTR):c.224T>C (p.Leu75Pro) AND Familial amyloid neuropathy | 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
- rs121918079 dbSNP
- Genome
- hg38
- Position
- chr18:31,595,143-31,595,143
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser