chr6:29828659:C> Detail (hg38) (HLA-G)

Information

Genome

Assembly Position
hg19 chr6:29,796,436-29,796,436 
hg38 chr6:29,828,659-29,828,659

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000360323.11:c.460delC ENST00000360323.11:p.Leu154CysfsTer60
ENST00000376815.3:c.343+343delC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.020

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 142871 OMIM
HGNC 4964 HGNC
Ensembl ENSG00000204632 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24708585 TogoVar
COSMIC COSM327991 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 hepatitis B Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated... BeFree 22015712 Detail
0.004 hepatitis B Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated... BeFree 22015712 Detail
0.001 liver carcinoma Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated... BeFree 22015712 Detail
Annotation

Annotations

DescrptionSourceLinks
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep... DisGeNET Detail
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep... DisGeNET Detail
Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep... 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
chr6:29,828,659-29,828,659
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Filtering Status (HGVD)
.
# of samples (HGVD)
1168
Mean of sample read depth (HGVD)
66.69
Standard deviation of sample read depth (HGVD)
29.67
Number of reference allele (HGVD)
2335
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.280821917808219E-4
Gene Symbol (HGVD)
HLA-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))
rs41557518
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0021
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
36
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8540
East Asian Allele Counts (ExAC)
173
East Asian Heterozygous Counts (ExAC)
169
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.020257611241217797
Chromosome Counts in All Race (ExAC)
117138
Allele Counts in All Race (ExAC)
2084
Heterozygous Counts in All Race (ExAC)
2000
Homozygous Counts in All Race (ExAC)
42
Allele Frequency in All Race (ExAC)
0.01779098157728491
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