chr8:22900701:G>A Detail (hg19) (TNFRSF10B)

Information

Genome

Assembly Position
hg19 chr8:22,900,701-22,900,701
hg38 chr8:23,043,188-23,043,188 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003842.4:c.200C>T NP_003833.4:p.Ala67Val
NM_147187.2:c.200C>T NP_671716.2:p.Ala67Val
Ensemble ENST00000276431.9:c.200C>T ENST00000276431.9:p.Ala67Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.244
ToMMo:0.257
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.301

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603612 OMIM
HGNC 11905 HGNC
Ensembl ENSG00000120889 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32471257 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-21 criteria provided, single submitter TNFRSF10B-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 asthma In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... BeFree 18829683 Detail
0.010 asthma In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... BeFree 18829683 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003842.5(TNFRSF10B):c.200C>T (p.Ala67Val) AND TNFRSF10B-related disorder ClinVar Detail
In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... DisGeNET Detail
In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... 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
-
Genome
hg19
Position
chr8:22,900,701-22,900,701
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
51.29
Standard deviation of sample read depth (HGVD)
22.55
Number of reference allele (HGVD)
1826
Number of alternative allele (HGVD)
588
Allele Frequency (HGVD)
0.2435791217895609
Gene Symbol (HGVD)
TNFRSF10B
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))
rs1047266
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2575
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4316
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
2593
East Asian Heterozygous Counts (ExAC)
1867
East Asian Homozygous Counts (ExAC)
363
East Asian Allele Frequency (ExAC)
0.30053314789058877
Chromosome Counts in All Race (ExAC)
120686
Allele Counts in All Race (ExAC)
10950
Heterozygous Counts in All Race (ExAC)
9324
Homozygous Counts in All Race (ExAC)
813
Allele Frequency in All Race (ExAC)
0.09073131929138425
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