chr18:29172937:G>C Detail (hg19) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,172,937-29,172,937 |
| hg38 | chr18:31,592,974-31,592,974 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.148G>C | NP_000362.1:p.Val50Leu |
| Ensemble | ENST00000237014.8:c.148G>C | ENST00000237014.8:p.Val50Leu |
| ENST00000610404.5:c.52G>C | ENST00000610404.5:p.Val18Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2021-09-05 | criteria provided, single submitter | Familial amyloid neuropathy |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Charcot-Marie-Tooth disease |
germline
|
Detail | |
|
Pathogenic
|
2019-09-17 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.488 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | NA | CLINVAR | Detail | |
| 0.488 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. | UNIPROT | 12050338 | Detail |
| 0.129 | Amyloidosis, Familial | Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease ... | BeFree | 20840742 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000371.4(TTR):c.148G>C (p.Val50Leu) AND Familial amyloid neuropathy | ClinVar | Detail |
| NM_000371.4(TTR):c.148G>C (p.Val50Leu) AND Charcot-Marie-Tooth disease | ClinVar | Detail |
| NM_000371.4(TTR):c.148G>C (p.Val50Leu) AND Cardiovascular phenotype | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. | DisGeNET | Detail |
| Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease caused by transthyre... | 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
- rs28933979 dbSNP
- Genome
- hg19
- Position
- chr18:29,172,937-29,172,937
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser