chr11:105007200:T>C Detail (hg38) (CASP5)

Information

Genome

Assembly Position
hg19 chr11:104,877,927-104,877,927 View the variant detail on this assembly version.
hg38 chr11:105,007,200-105,007,200

HGVS

Type Transcript Protein
RefSeq NM_001136112.1:c.355A>G NP_001129584.1:p.Thr119Ala
NM_004347.3:c.355A>G NP_004338.3:p.Thr119Ala
NM_001136110.1:c.8-3817A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.241
ToMMo:0.259
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.218

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602665 OMIM
HGNC 1506 HGNC
Ensembl ENSG00000137757 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43888967 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Carcinoma of lung Meta-analysis results showed positive associations between heterozygote (A/G) of... BeFree 23315881 Detail
0.014 Malignant neoplasm of lung Meta-analysis results showed positive associations between heterozygote (A/G) of... BeFree 23315881 Detail
Annotation

Annotations

DescrptionSourceLinks
Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CAS... DisGeNET Detail
Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CAS... 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
hg38
Position
chr11:105,007,200-105,007,200
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
134.29
Standard deviation of sample read depth (HGVD)
62.06
Number of reference allele (HGVD)
1836
Number of alternative allele (HGVD)
584
Allele Frequency (HGVD)
0.2413223140495868
Gene Symbol (HGVD)
CASP5
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))
rs507879
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2585
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4332
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
1883
East Asian Heterozygous Counts (ExAC)
1473
East Asian Homozygous Counts (ExAC)
205
East Asian Allele Frequency (ExAC)
0.21783896344285053
Chromosome Counts in All Race (ExAC)
121294
Allele Counts in All Race (ExAC)
52748
Heterozygous Counts in All Race (ExAC)
28628
Homozygous Counts in All Race (ExAC)
12060
Allele Frequency in All Race (ExAC)
0.43487724042409354
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