chr18:31598580:G>T Detail (hg38) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,178,543-29,178,543 View the variant detail on this assembly version. |
| hg38 | chr18:31,598,580-31,598,580 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.349G>T | NP_000362.1:p.Ala117Ser |
| Ensemble | ENST00000237014.8:c.349G>T | ENST00000237014.8:p.Ala117Ser |
| ENST00000610404.5:c.253G>T | ENST00000610404.5:p.Ala85Ser |
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
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | Familial amyloid neuropathy |
germline
|
Detail |
|
Likely pathogenic
|
2017-02-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-03-03 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2022-05-11 | criteria provided, single submitter | carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic |
unknown
|
Detail |
|
Pathogenic
|
2022-05-11 | criteria provided, single submitter | carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic |
unknown
|
Detail |
|
Pathogenic
|
2022-05-11 | criteria provided, single submitter | carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic |
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.349G>T (p.Ala117Ser) AND Familial amyloid neuropathy | ClinVar | Detail |
| NM_000371.4(TTR):c.349G>T (p.Ala117Ser) AND not provided | ClinVar | Detail |
| NM_000371.4(TTR):c.349G>T (p.Ala117Ser) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000371.4(TTR):c.349G>T (p.Ala117Ser) AND multiple conditions | ClinVar | Detail |
| NM_000371.4(TTR):c.349G>T (p.Ala117Ser) AND multiple conditions | ClinVar | Detail |
| NM_000371.4(TTR):c.349G>T (p.Ala117Ser) 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
- rs267607161 dbSNP
- Genome
- hg38
- Position
- chr18:31,598,580-31,598,580
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser