chr18:29175100:G>A Detail (hg19) (TTR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:29,175,100-29,175,100 |
| hg38 | chr18:31,595,137-31,595,137 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000371.3:c.218G>A | NP_000362.1:p.Gly73Glu |
| Ensemble | ENST00000237014.8:c.218G>A | ENST00000237014.8:p.Gly73Glu |
| ENST00000610404.5:c.122G>A | ENST00000610404.5:p.Gly41Glu |
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
|
2001-07-10 | no assertion criteria provided | Familial amyloid neuropathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.018 | Plaque, Amyloid | A sural nerve biopsy disclosed amyloid deposits, which led to the identification... | BeFree | 25471118 | Detail |
| 0.006 | neuropathy | A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively wit... | BeFree | 25471118 | Detail |
| 0.120 | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000371.4(TTR):c.218G>A (p.Gly73Glu) AND Familial amyloid neuropathy | ClinVar | Detail |
| A sural nerve biopsy disclosed amyloid deposits, which led to the identification of a rare heterozyg... | DisGeNET | Detail |
| A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progress... | DisGeNET | 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
- rs121918097 dbSNP
- Genome
- hg19
- Position
- chr18:29,175,100-29,175,100
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser