chr9:121006922:C>T Detail (hg38) (C5)

Information

Genome

Assembly Position
hg19 chr9:123,769,200-123,769,200 View the variant detail on this assembly version.
hg38 chr9:121,006,922-121,006,922

HGVS

Type Transcript Protein
RefSeq NM_001317163.1:c.2404G>A NP_001304092.1:p.Val802Ile
NM_001735.2:c.2404G>A NP_001726.2:p.Val802Ile
Ensemble ENST00000223642.3:c.2404G>A ENST00000223642.3:p.Val802Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.509
ToMMo:0.520
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.554

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120900 OMIM
HGNC 1331 HGNC
Ensembl ENSG00000106804 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37499789 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Metabolic syndrome X In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) a... BeFree 19619703 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001735.3(C5):c.2404G>A (p.Val802Ile) AND not specified ClinVar Detail
NM_001735.3(C5):c.2404G>A (p.Val802Ile) AND not provided ClinVar Detail
In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) and PAI1 rs1799768 (O... 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
rs17611 dbSNP
Genome
hg38
Position
chr9:121,006,922-121,006,922
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
110.59
Standard deviation of sample read depth (HGVD)
49.59
Number of reference allele (HGVD)
1189
Number of alternative allele (HGVD)
1231
Allele Frequency (HGVD)
0.5086776859504132
Gene Symbol (HGVD)
C5
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))
rs17611
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5195
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8707
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)
4787
East Asian Heterozygous Counts (ExAC)
2159
East Asian Homozygous Counts (ExAC)
1314
East Asian Allele Frequency (ExAC)
0.5539227030779912
Chromosome Counts in All Race (ExAC)
121312
Allele Counts in All Race (ExAC)
55638
Heterozygous Counts in All Race (ExAC)
27646
Homozygous Counts in All Race (ExAC)
13996
Allele Frequency in All Race (ExAC)
0.4586355842785545
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