chr10:77838130:A>G Detail (hg38) (DLG5)

Information

Genome

Assembly Position
hg19 chr10:79,597,888-79,597,888 View the variant detail on this assembly version.
hg38 chr10:77,838,130-77,838,130

HGVS

Type Transcript Protein
RefSeq NM_004747.3:c.1438-2208T>C
Ensemble ENST00000372391.7:c.1438-2208T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.775
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 604090 OMIM
HGNC 2904 HGNC
Ensembl ENSG00000151208 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39873462 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
rs1270912 dbSNP
Genome
hg38
Position
chr10:77,838,130-77,838,130
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))
rs1270912
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7746
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12982
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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