chr11:619789:T>G Detail (hg38) (CDHR5)

Information

Genome

Assembly Position
hg19 chr11:619,789-619,789 View the variant detail on this assembly version.
hg38 chr11:619,789-619,789

HGVS

Type Transcript Protein
RefSeq NM_031264.3:c.1071A>C NP_112554.2:p.Arg357Ser
NM_001171968.1:c.1071A>C NP_001165439.1:p.Arg357Ser
NM_021924.4:c.1071A>C NP_068743.2:p.Arg357Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.774
ToMMo:0.784
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.720

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606839 OMIM
HGNC 7521 HGNC
Ensembl ENSG00000099834 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41273829 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
0.022 Lupus Erythematosus, Systemic Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical... BeFree 21167895 Detail
Annotation

Annotations

DescrptionSourceLinks
Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical subphenotypes, such... 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
-
Genome
hg38
Position
chr11:619,789-619,789
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1145
Mean of sample read depth (HGVD)
33.96
Standard deviation of sample read depth (HGVD)
17.26
Number of reference allele (HGVD)
518
Number of alternative allele (HGVD)
1771
Allele Frequency (HGVD)
0.7737003058103975
Gene Symbol (HGVD)
CDHR5
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))
rs2246614
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.784
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13139
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7888
East Asian Allele Counts (ExAC)
5678
East Asian Heterozygous Counts (ExAC)
1706
East Asian Homozygous Counts (ExAC)
1986
East Asian Allele Frequency (ExAC)
0.7198275862068966
Chromosome Counts in All Race (ExAC)
106700
Allele Counts in All Race (ExAC)
69361
Heterozygous Counts in All Race (ExAC)
24867
Homozygous Counts in All Race (ExAC)
22247
Allele Frequency in All Race (ExAC)
0.6500562324273664
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