chr11:108225566:A>C Detail (hg19) (ATM, C11orf65)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,225,566-108,225,566 |
| hg38 | chr11:108,354,839-108,354,839 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.8815A>C | NP_000042.3:p.Arg2939= |
| NM_001351834.1:c.8815A>C | NP_001338763.1:p.Arg2939= | |
| Ensemble | ENST00000278616.10:c.8815A>C | ENST00000278616.10:p.Arg2939= |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330368.1:c.640+31081T>G | |
| Ensemble | ENST00000525729.5:c.640+31081T>G | |
| ENST00000615746.4:c.*1196+76T>G |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 607585 | OMIM |
| HGNC | 795 | HGNC | |
| Ensembl | ENSG00000149311 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 28519 | HGNC | |
| Ensembl | ENSG00000166323 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
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 |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2016-09-08 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000051.4(ATM):c.8815A>C (p.Arg2939=) AND Hereditary cancer-predisposing syndrome | 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
- rs1555143522 dbSNP
- Genome
- hg19
- Position
- chr11:108,225,566-108,225,566
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser