chr11:108344670:T>G Detail (hg38) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,215,397-108,215,397 View the variant detail on this assembly version.
hg38 chr11:108,344,670-108,344,670

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
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 tgv43966121 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 tgv43966121 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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
hg38
Position
chr11:108,344,670-108,344,670
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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