chr11:108309110:A>G Detail (hg38) (ATM, C11orf65)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,179,837-108,179,837 View the variant detail on this assembly version. |
hg38 | chr11:108,309,110-108,309,110 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.5763-1050A>G | |
NM_001351834.1:c.5763-1050A>G | ||
Ensemble | ENST00000278616.10:c.5763-1050A>G |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001330368.1:c.641-39T>C | |
Ensemble | ENST00000525729.5:c.641-39T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2004-06-01 | no assertion criteria provided | Ataxia - telangiectasia variant |
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Detail |
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2024-01-28 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
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Detail |
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2022-10-07 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-03-29 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
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Detail |
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2022-03-29 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
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Detail |
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2023-01-27 | criteria provided, single submitter | Breast and/or ovarian cancer |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Ataxia-Telangiectasia Variant | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.5763-1050A>G AND Ataxia - telangiectasia variant | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND multiple conditions | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND multiple conditions | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND Breast and/or ovarian cancer | ClinVar | Detail |
NM_000051.4(ATM):c.5763-1050A>G AND Familial cancer of breast | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs774925473 dbSNP
- Genome
- hg38
- Position
- chr11:108,309,110-108,309,110
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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