chr17:56770040:G>A Detail (hg19) (RAD51C)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:56,770,040-56,770,040 |
| hg38 | chr17:58,692,679-58,692,679 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002876.3:c.36G>A | NP_002867.1:p.Arg12= |
| NM_058216.2:c.36G>A | NP_478123.1:p.Arg12= | |
| Ensemble | ENST00000583539.5:c.36G>A | ENST00000583539.5:p.Arg12= |
Summary
MGeND
| Clinical significance |
Benign
not provided
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2021/03/19 | control |
germline
|
MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Benign
|
2021/03/19 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2020-01-15 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely benign
|
2023-04-12 | criteria provided, single submitter | Fanconi anemia complementation group O |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_058216.3(RAD51C):c.36G>A (p.Arg12=) AND Fanconi anemia complementation group O | 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
- rs876658798 dbSNP
- Genome
- hg19
- Position
- chr17:56,770,040-56,770,040
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser