chr1:196706705:T>A Detail (hg19) (CFH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:196,706,705-196,706,705 |
| hg38 | chr1:196,737,575-196,737,575 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000186.3:c.2697T>A | NP_000177.2:p.Tyr899Ter |
| Ensemble | ENST00000695970.1:c.2697T>A | ENST00000695970.1:p.Tyr899Ter |
| ENST00000367429.9:c.2697T>A | ENST00000367429.9:p.Tyr899Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Pathogenic; risk factor |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Pathogenic; risk factor | 2019-04-26 | no assertion criteria provided | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.320 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) AND Hemolytic uremic syndrome, atypical, susceptibility to,... | 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
- rs121913057 dbSNP
- Genome
- hg19
- Position
- chr1:196,706,705-196,706,705
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser