chr2:201287439:T>A Detail (hg38) (CASP8)

Information

Genome

Assembly Position
hg19 chr2:202,152,162-202,152,162 View the variant detail on this assembly version.
hg38 chr2:201,287,439-201,287,439

HGVS

Type Transcript Protein
RefSeq NM_033356.3:c.*845T>A
NM_001080125.1:c.*845T>A
NR_111983.1:c.*845T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.397
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 601763 OMIM
HGNC 1509 HGNC
Ensembl ENSG00000064012 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10142796 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter autoimmune lymphoproliferative syndrome type 2B 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_001372051.1(CASP8):c.*845T>A AND Autoimmune lymphoproliferative syndrome type 2B 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
-
dbSNP
rs13113 dbSNP
Genome
hg38
Position
chr2:201,287,439-201,287,439
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs13113
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3973
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6659
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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