chr11:108124761:T>C Detail (hg19) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,124,761-108,124,761 |
hg38 | chr11:108,254,034-108,254,034 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.2119T>C | NP_000042.3:p.Ser707Pro |
NM_001351834.1:c.2119T>C | NP_001338763.1:p.Ser707Pro | |
Ensemble | ENST00000675843.1:c.2119T>C | ENST00000675843.1:p.Ser707Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
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Detail |
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2018-05-23 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-07-07 | criteria provided, single submitter | Familial cancer of breast |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.047 | breast carcinoma | No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... | BeFree | 12473176 | Detail |
0.128 | Malignant neoplasm of breast | No evidence for association of ataxia-telangiectasia mutated gene T2119C and C31... | BeFree | 12473176 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND not specified | ClinVar | Detail |
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) AND Familial cancer of breast | ClinVar | Detail |
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... | DisGeNET | Detail |
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid subst... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs4986761 dbSNP
- Genome
- hg19
- Position
- chr11:108,124,761-108,124,761
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8534
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3435669088352472E-4
- Chromosome Counts in All Race (ExAC)
- 119470
- Allele Counts in All Race (ExAC)
- 947
- Heterozygous Counts in All Race (ExAC)
- 933
- Homozygous Counts in All Race (ExAC)
- 7
- Allele Frequency in All Race (ExAC)
- 0.007926676153009123
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