chr18:31595209:C>A Detail (hg38) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,175,172-29,175,172 View the variant detail on this assembly version. |
| hg38 | chr18:31,595,209-31,595,209 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.290C>A | NP_000362.1:p.Ser97Tyr |
| Ensemble | ENST00000237014.8:c.290C>A | ENST00000237014.8:p.Ser97Tyr |
| ENST00000610404.5:c.194C>A | ENST00000610404.5:p.Ser65Tyr |
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
|
2024-01-05 | criteria provided, multiple submitters, no conflicts | Familial amyloid neuropathy |
germline
|
Detail |
|
Pathogenic
|
2023-09-19 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2018-08-02 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Charcot-Marie-Tooth disease |
germline
|
Detail | |
|
Pathogenic
|
2022-04-14 | criteria provided, single submitter |
germline
|
Detail | |
|
Likely pathogenic
|
2021-11-15 | criteria provided, single submitter | Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2021-11-15 | criteria provided, single submitter | Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2021-11-15 | criteria provided, single submitter | Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 |
unknown
|
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.290C>A (p.Ser97Tyr) AND Familial amyloid neuropathy | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND not provided | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND not specified | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND Charcot-Marie-Tooth disease | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND multiple conditions | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND multiple conditions | ClinVar | Detail |
| NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND multiple conditions | 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
- rs121918071 dbSNP
- Genome
- hg38
- Position
- chr18:31,595,209-31,595,209
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser