chr17:61554686:G>T Detail (hg19) (ACE, LOC130061383)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,554,686-61,554,686 |
| hg38 | chr17:63,477,325-63,477,325 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000789.3:c.231G>T | NP_000780.1:p.Ala77= |
| Ensemble | ENST00000428043.5:c.231G>T | ENST00000428043.5:p.Ala77= |
| ENST00000290866.10:c.231G>T | ENST00000290866.10:p.Ala77= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2022-07-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000789.4(ACE):c.231G>T (p.Ala77=) AND not provided | ClinVar | 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
- rs184457276 dbSNP
- Genome
- hg19
- Position
- chr17:61,554,686-61,554,686
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser