chr18:29175090:A>C Detail (hg19) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,175,090-29,175,090 |
| hg38 | chr18:31,595,127-31,595,127 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.208A>C | NP_000362.1:p.Ser70Arg |
| Ensemble | ENST00000237014.8:c.208A>C | ENST00000237014.8:p.Ser70Arg |
| ENST00000610404.5:c.112A>C | ENST00000610404.5:p.Ser38Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | 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.208A>C (p.Ser70Arg) 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
- rs386134269 dbSNP
- Genome
- hg19
- Position
- chr18:29,175,090-29,175,090
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser