chr11:108304693:C>T Detail (hg38) (ATM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,175,420-108,175,420 View the variant detail on this assembly version. |
| hg38 | chr11:108,304,693-108,304,693 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.5515C>T | NP_000042.3:p.Gln1839Ter |
| NM_001351834.1:c.5515C>T | NP_001338763.1:p.Gln1839Ter | |
| Ensemble | ENST00000278616.10:c.5515C>T | ENST00000278616.10:p.Gln1839Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-09-06 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-05-23 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-25 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
germline
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.709 | ataxia telangiectasia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) AND Familial cancer of breast | ClinVar | Detail |
| NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) AND not provided | 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
- rs786204751 dbSNP
- Genome
- hg38
- Position
- chr11:108,304,693-108,304,693
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser