chr10:115489152:C>G Detail (hg19) (CASP7)

Information

Genome

Assembly Position
hg19 chr10:115,489,152-115,489,152
hg38 chr10:113,729,393-113,729,393 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001267058.1:c.690C>G NP_001253987.1:p.Asp230Glu
NM_001267056.1:c.765C>G NP_001253985.1:p.Asp255Glu
NM_001320911.1:c.765C>G NP_001307840.1:p.Asp255Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.452
ToMMo:0.476
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.422

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601761 OMIM
HGNC 1508 HGNC
Ensembl ENSG00000165806 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40726114 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-02-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of lung In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs46459... BeFree 20661084 Detail
<0.001 Non-small cell lung carcinoma The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in ear... BeFree 19826114 Detail
<0.001 Carcinoma of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.002 Carcinoma of lung In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs46459... BeFree 20661084 Detail
0.002 Non-small cell lung carcinoma The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in ear... BeFree 19826114 Detail
0.008 Malignant neoplasm of lung In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs46459... BeFree 20661084 Detail
0.008 Malignant neoplasm of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.014 Malignant neoplasm of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.014 Malignant neoplasm of lung In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs46459... BeFree 20661084 Detail
0.002 Carcinoma of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001227.5(CASP7):c.765C>G (p.Asp255Glu) AND not provided ClinVar Detail
In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs4645981C&gt;T were associ... DisGeNET Detail
The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in early-stage NSCLC. DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs4645981C&gt;T were associ... DisGeNET Detail
The CASP7 rs2227310 and CASP9 rs4645981 polymorphisms may affect survival in early-stage NSCLC. DisGeNET Detail
In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs4645981C&gt;T were associ... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
In individual polymorphism analysis, the CASP7 rs2227310C&gt;G and CASP9 rs4645981C&gt;T were associ... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... 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
rs2227310 dbSNP
Genome
hg19
Position
chr10:115,489,152-115,489,152
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1189
Mean of sample read depth (HGVD)
70.32
Standard deviation of sample read depth (HGVD)
34.52
Number of reference allele (HGVD)
1303
Number of alternative allele (HGVD)
1073
Allele Frequency (HGVD)
0.4515993265993266
Gene Symbol (HGVD)
CASP7
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))
rs2227310
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4757
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7973
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
3645
East Asian Heterozygous Counts (ExAC)
2107
East Asian Homozygous Counts (ExAC)
769
East Asian Allele Frequency (ExAC)
0.42226598702502316
Chromosome Counts in All Race (ExAC)
121384
Allele Counts in All Race (ExAC)
31539
Heterozygous Counts in All Race (ExAC)
22869
Homozygous Counts in All Race (ExAC)
4335
Allele Frequency in All Race (ExAC)
0.25982831345152574
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