chr3:30674001:A>T Detail (hg38) (TGFBR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:30,715,493-30,715,493 View the variant detail on this assembly version. |
| hg38 | chr3:30,674,001-30,674,001 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003242.5:c.1255-104A>T | |
| NM_001024847.2:c.1330-104A>T | ||
| Ensemble | ENST00000295754.10:c.1255-104A>T |
Summary
MGeND
| Clinical significance |
Likely benign
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely benign
|
2021/05/14 | other |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Likely benign
|
2021/05/14 | polyp of colon |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Likely benign
|
2021/05/14 | connective and other soft tissue |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs866974554 dbSNP
- Genome
- hg38
- Position
- chr3:30,674,001-30,674,001
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- 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))
- rs866974554
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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