chr5:132391988:T>C Detail (hg38) (SLC22A5)

Information

Genome

Assembly Position
hg19 chr5:131,727,680-131,727,680 View the variant detail on this assembly version.
hg38 chr5:132,391,988-132,391,988

HGVS

Type Transcript Protein
RefSeq NM_003060.3:c.1268-445T>C
NM_001308122.1:c.1340-445T>C
Ensemble ENST00000245407.8:c.1268-445T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.959
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 603377 OMIM
HGNC 10969 HGNC
Ensembl ENSG00000197375 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22778853 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
0.157 Inflammatory Bowel Diseases Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitme... BeFree 17476680 Detail
Annotation

Annotations

DescrptionSourceLinks
Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp29... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs274551 dbSNP
Genome
hg38
Position
chr5:132,391,988-132,391,988
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs274551
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9594
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16080
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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