chr1:15506048:T>C Detail (hg38) (CASP9)

Information

Genome

Assembly Position
hg19 chr1:15,832,543-15,832,543 View the variant detail on this assembly version.
hg38 chr1:15,506,048-15,506,048

HGVS

Type Transcript Protein
RefSeq NM_001229.4:c.662A>G NP_001220.2:p.Gln221Arg
NM_001278054.1:c.419-10596A>G
NM_032996.3:c.413A>G NP_127463.2:p.Gln138Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.637
ToMMo:0.646
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.651

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602234 OMIM
HGNC 1511 HGNC
Ensembl ENSG00000132906 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv482072 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-18 criteria provided, single submitter CASP9-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Lymphoma, Non-Hodgkin We investigated five single nucleotide polymorphisms in four key caspase genes, ... BeFree 17071630 Detail
0.006 multiple myeloma To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes ... BeFree 18381704 Detail
<0.001 multiple myeloma To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes ... BeFree 18381704 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001229.5(CASP9):c.662A>G (p.Gln221Arg) AND CASP9-related disorder ClinVar Detail
We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C&gt;A... DisGeNET Detail
To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes [CASP3 Ex8-280 C &gt... DisGeNET Detail
To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes [CASP3 Ex8-280 C &gt... 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
chr1:15,506,048-15,506,048
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1192
Mean of sample read depth (HGVD)
44.57
Standard deviation of sample read depth (HGVD)
21.04
Number of reference allele (HGVD)
866
Number of alternative allele (HGVD)
1517
Allele Frequency (HGVD)
0.6365925304238355
Gene Symbol (HGVD)
CASP9
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))
rs1052576
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6461
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10829
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
5608
East Asian Heterozygous Counts (ExAC)
1924
East Asian Homozygous Counts (ExAC)
1842
East Asian Allele Frequency (ExAC)
0.6510332017645694
Chromosome Counts in All Race (ExAC)
121234
Allele Counts in All Race (ExAC)
65095
Heterozygous Counts in All Race (ExAC)
28935
Homozygous Counts in All Race (ExAC)
18080
Allele Frequency in All Race (ExAC)
0.5369368329016613
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