chr11:108218044:A>C Detail (hg19) (ATM, C11orf65)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,218,044-108,218,044 |
| hg38 | chr11:108,347,317-108,347,317 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001351834.1:c.8623A>C | NP_001338763.1:p.Asn2875His |
| NM_000051.3:c.8623A>C | NP_000042.3:p.Asn2875His | |
| Ensemble | ENST00000452508.7:c.8623A>C | ENST00000452508.7:p.Asn2875His |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330368.1:c.641-38246T>G | |
| Ensemble | ENST00000525729.5:c.641-38246T>G | |
| ENST00000615746.4:c.*1196+7598T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
2016-03-10 | no assertion provided | Prostate neoplasm |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| prostate cancer | Olaparib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26510020 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Treatment with the PARP inhibitor olaparib in patients whose prostate cancers were no longer respond... | CIViC Evidence | Detail |
| NM_000051.4(ATM):c.8623A>C (p.Asn2875His) AND Prostate neoplasm | 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
- rs1057519869 dbSNP
- Genome
- hg19
- Position
- chr11:108,218,044-108,218,044
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- N2875H
- Transcript 1 (CIViC Variant)
- ENST00000278616.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/244
- Summary (CIViC Variant)
- A missense mutation within the C-terminal phosphoinositide 3-kinase (PI3K) catalytic domain
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