chr4:185550089:A>G Detail (hg19) (CASP3)

Information

Genome

Assembly Position
hg19 chr4:185,550,089-185,550,089
hg38 chr4:184,628,935-184,628,935 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004346.3:c.*337T>C
NM_032991.2:c.*337T>C
Ensemble ENST00000308394.9:c.*337T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.795
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 600636 OMIM
HGNC 1504 HGNC
Ensembl ENSG00000164305 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19816047 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
0.008 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_004346.4(CASP3):c.*337T>C AND not provided 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
rs1049216 dbSNP
Genome
hg19
Position
chr4:185,550,089-185,550,089
Variant Type
snv
Reference Allele
A
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))
rs1049216
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7955
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13333
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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