chr11:94224012:G>A Detail (hg19) (MRE11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:94,224,012-94,224,012 |
| hg38 | chr11:94,490,846-94,490,846 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005591.3:c.140C>T | NP_005582.1:p.Ala47Val |
| NM_005590.3:c.140C>T | NP_005581.2:p.Ala47Val | |
| NM_001330347.1:c.140C>T | NP_001317276.1:p.Ala47Val |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
2018/05/10 | pancreas, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
ataxia-telangiectasia-like disorder |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2014-02-15 | no assertion criteria provided | Ataxia-telangiectasia-like disorder 1 |
germline
|
Detail |
|
Uncertain significance
|
2019-02-15 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2021-07-14 | criteria provided, single submitter | Ataxia-telangiectasia-like disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Ataxia-telangiectasia-like disorder | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Ataxia-telangiectasia-like disorder 1 | ClinVar | Detail |
| NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Ataxia-telangiectasia-like disorder | 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
- rs730880378 dbSNP
- Genome
- hg19
- Position
- chr11:94,224,012-94,224,012
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1198
- Mean of sample read depth (HGVD)
- 39.59
- Standard deviation of sample read depth (HGVD)
- 26.52
- Number of reference allele (HGVD)
- 2395
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1736227045075126E-4
- Gene Symbol (HGVD)
- MRE11A
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