chr9:99150189:A>G Detail (hg38) (TGFBR1)

Information

Genome

Assembly Position
hg19 chr9:101,912,471-101,912,471 View the variant detail on this assembly version.
hg38 chr9:99,150,189-99,150,189

HGVS

Type Transcript Protein
RefSeq NM_001130916.2:c.*884A>G
NM_004612.3:c.*884A>G
NM_001306210.1:c.*884A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.551
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
Type Database ID Link
Gene MIM 190181 OMIM
HGNC 11772 HGNC
Ensembl ENSG00000106799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36998080 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Loeys-Dietz syndrome germline Detail
Benign 2024-01-22 criteria provided, multiple submitters, no conflicts Familial thoracic aortic aneurysm and aortic dissection germline Detail
Benign 2016-06-14 criteria provided, single submitter Loeys-Dietz syndrome 1 germline Detail
Benign 2019-11-15 criteria provided, single submitter Ehlers-Danlos syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Malignant neoplasm of breast To assess whether target SNPs are implicated in BC susceptibility, we conducted ... BeFree 20332227 Detail
0.080 breast carcinoma To assess whether target SNPs are implicated in BC susceptibility, we conducted ... BeFree 20332227 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004612.4(TGFBR1):c.*884A>G AND Loeys-Dietz syndrome ClinVar Detail
NM_004612.4(TGFBR1):c.*884A>G AND Familial thoracic aortic aneurysm and aortic dissection ClinVar Detail
NM_004612.4(TGFBR1):c.*884A>G AND Loeys-Dietz syndrome 1 ClinVar Detail
NM_004612.4(TGFBR1):c.*884A>G AND Ehlers-Danlos syndrome ClinVar Detail
To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control popul... DisGeNET Detail
To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control popul... 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
rs334348 dbSNP
Genome
hg38
Position
chr9:99,150,189-99,150,189
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))
rs334348
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5512
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9238
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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