chr11:108215397:T>G Detail (hg19) (ATM, C11orf65)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,215,397-108,215,397 |
hg38 | chr11:108,344,670-108,344,670 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.8419-1073T>G | |
NM_001351834.1:c.8419-1073T>G | ||
Ensemble | ENST00000278616.10:c.8419-1073T>G |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001330368.1:c.641-35599A>C | |
Ensemble | ENST00000525729.5:c.641-35599A>C | |
ENST00000615746.4:c.*1197-9378A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.019 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Prostate Cancer, Hereditary, 7 | SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate ... | BeFree | 25540025 | Detail |
0.002 | adenoma | Among the top findings, an SNP (rs17503908) in ataxia telangiectasia mutated (AT... | BeFree | 21504893 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate cancer aggressivenes... | DisGeNET | Detail |
Among the top findings, an SNP (rs17503908) in ataxia telangiectasia mutated (ATM) was inversely rel... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs17503908 dbSNP
- Genome
- hg19
- Position
- chr11:108,215,397-108,215,397
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs17503908
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0192
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 321
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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