chr11:108172506:C>G Detail (hg19) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,172,506-108,172,506 |
hg38 | chr11:108,301,779-108,301,779 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.5309C>G | NP_000042.3:p.Ser1770Ter |
NM_001351834.1:c.5309C>G | NP_001338763.1:p.Ser1770Ter | |
Ensemble | ENST00000675843.1:c.5309C>G | ENST00000675843.1:p.Ser1770Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1997-10-01 | no assertion criteria provided | T-cell prolymphocytic leukemia |
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Detail |
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2023-01-15 | criteria provided, single submitter | Ataxia-telangiectasia syndrome |
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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 |
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2023-06-26 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.126 | T-cell prolymphocytic leukemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND T-cell prolymphocytic leukemia | ClinVar | Detail |
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND Familial cancer of breast | ClinVar | Detail |
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND Hereditary cancer-predisposing syndrome | 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
- rs121434223 dbSNP
- Genome
- hg19
- Position
- chr11:108,172,506-108,172,506
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser