chr18:31595184:T>C Detail (hg38) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,175,147-29,175,147 View the variant detail on this assembly version. |
| hg38 | chr18:31,595,184-31,595,184 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.265T>C | NP_000362.1:p.Tyr89His |
| Ensemble | ENST00000237014.8:c.265T>C | ENST00000237014.8:p.Tyr89His |
| ENST00000610404.5:c.169T>C | ENST00000610404.5:p.Tyr57His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2020-06-28 | criteria provided, multiple submitters, no conflicts | Familial amyloid neuropathy |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2019-12-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-01-25 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000371.4(TTR):c.265T>C (p.Tyr89His) AND Familial amyloid neuropathy | ClinVar | Detail |
| NM_000371.4(TTR):c.265T>C (p.Tyr89His) AND not provided | ClinVar | Detail |
| NM_000371.4(TTR):c.265T>C (p.Tyr89His) AND Cardiovascular phenotype | 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
- rs121918100 dbSNP
- Genome
- hg38
- Position
- chr18:31,595,184-31,595,184
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser