chr3:30647160:A>G Detail (hg19) (TGFBR2)

Information

Genome

Assembly Position
hg19 chr3:30,647,160-30,647,160
hg38 chr3:30,605,668-30,605,668 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.797
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 congenital heart defects To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor I... BeFree 24443223 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000003.12:g.30605668A>G AND Familial thoracic aortic aneurysm and aortic dissection ClinVar Detail
To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor II (TGFβR2) and vascu... DisGeNET Detail
Gene
-
dbSNP
rs3087465 dbSNP
Genome
hg19
Position
chr3:30,647,160-30,647,160
Variant Type
snv
Reference Allele
A
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))
rs3087465
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7967
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13353
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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