chr3:30672350:C>T Detail (hg38) (TGFBR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:30,713,842-30,713,842 View the variant detail on this assembly version. |
| hg38 | chr3:30,672,350-30,672,350 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003242.5:c.1167C>T | NP_003233.4:p.Asn389= |
| NM_001024847.2:c.1242C>T | NP_001020018.1:p.Asn414= | |
| Ensemble | ENST00000295754.10:c.1167C>T | ENST00000295754.10:p.Asn389= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.253 |
| ToMMo:0.252 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.295 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2019-03-25 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Marfan syndrome |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Loeys-Dietz syndrome |
germline
|
Detail |
|
Benign
|
2015-02-19 | criteria provided, single submitter |
germline
|
Detail | |
|
Benign
|
2024-02-05 | criteria provided, multiple submitters, no conflicts | Loeys-Dietz syndrome 2 |
germline
|
Detail |
|
Benign
|
2022-09-23 | no assertion criteria provided | thoracic aortic aneurysm |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.015 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| 0.003 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| <0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| <0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND not specified | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Familial thoracic aortic aneurysm and aortic dissectio... | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Marfan syndrome | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Loeys-Dietz syndrome | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Loeys-Dietz syndrome 2 | ClinVar | Detail |
| NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Thoracic aortic aneurysm | ClinVar | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | 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
- rs2228048 dbSNP
- Genome
- hg38
- Position
- chr3:30,672,350-30,672,350
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1196
- Mean of sample read depth (HGVD)
- 44.58
- Standard deviation of sample read depth (HGVD)
- 36.20
- Number of reference allele (HGVD)
- 1786
- Number of alternative allele (HGVD)
- 606
- Allele Frequency (HGVD)
- 0.25334448160535117
- Gene Symbol (HGVD)
- TGFBR2
- 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))
- rs2228048
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2521
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4226
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 2552
- East Asian Heterozygous Counts (ExAC)
- 1838
- East Asian Homozygous Counts (ExAC)
- 357
- East Asian Allele Frequency (ExAC)
- 0.2953020134228188
- Chromosome Counts in All Race (ExAC)
- 120748
- Allele Counts in All Race (ExAC)
- 6652
- Heterozygous Counts in All Race (ExAC)
- 5600
- Homozygous Counts in All Race (ExAC)
- 526
- Allele Frequency in All Race (ExAC)
- 0.05508993937787789
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