chr2:201288355:T>G Detail (hg38) (CASP8, FLACC1)

Information

Genome

Assembly Position
hg19 chr2:202,153,078-202,153,078 View the variant detail on this assembly version.
hg38 chr2:201,288,355-201,288,355

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000696069.1:c.1259+3038T>G
Type Transcript Protein
RefSeq NM_001127391.2:c.*300A>C
Ensemble ENST00000286190.9:c.*300A>C
ENST00000392257.8:c.*300A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.653
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv10142808 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 619796 OMIM
HGNC 14439 HGNC
Ensembl ENSG00000155749 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10142808 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
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Squamous cell carcinoma of esophagus These findings indicated that the functional polymorphism CASP8 rs1035142 G&gt;T... BeFree 24464182 Detail
Annotation

Annotations

DescrptionSourceLinks
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
These findings indicated that the functional polymorphism CASP8 rs1035142 G&gt;T might contribute to... 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
rs1035142 dbSNP
Genome
hg38
Position
chr2:201,288,355-201,288,355
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs1035142
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6526
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10938
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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