chr11:108172385:C>T Detail (hg19) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,172,385-108,172,385 |
hg38 | chr11:108,301,658-108,301,658 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.5188C>T | NP_000042.3:p.Arg1730Ter |
NM_001351834.1:c.5188C>T | NP_001338763.1:p.Arg1730Ter | |
Ensemble | ENST00000278616.10:c.5188C>T | ENST00000278616.10:p.Arg1730Ter |
Summary
MGeND
Clinical significance |
![]() ![]() ![]() |
Variant entry | 5 |
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 |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
2018/01/13 | breast, unspecified |
![]() |
MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
![]() |
Adenocarcinoma of pancreas |
![]() |
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
![]() |
2020/04/20 | transverse colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
![]() |
2021/03/19 | control |
![]() |
MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
![]() |
2020/04/20 | descending colon |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() ![]() |
2024-01-24 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
![]() ![]() |
Detail |
![]() |
2022-08-29 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2018-02-12 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2021-07-01 | no assertion criteria provided | Gastric cancer |
![]() |
Detail |
![]() |
2024-01-25 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.709 | ataxia telangiectasia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Gastric cancer | ClinVar | Detail |
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Familial cancer of breast | 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
- rs764389018 dbSNP
- Genome
- hg19
- Position
- chr11:108,172,385-108,172,385
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Homozygous Counts in All Race (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121322
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 8.242528148233626E-6
Genome browser