chr7:47965365:C>T Detail (hg38) (HUS1)

Information

Genome

Assembly Position
hg19 chr7:48,004,962-48,004,962 View the variant detail on this assembly version.
hg38 chr7:47,965,365-47,965,365

HGVS

Type Transcript Protein
RefSeq NM_004507.3:c.834G>A NP_004498.1:p.Ala278=
NR_037917.1:c.834G>A
Ensemble ENST00000258774.10:c.834G>A ENST00000258774.10:p.Ala278=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.497
ToMMo:0.500
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.550

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603760 OMIM
HGNC 5309 HGNC
Ensembl ENSG00000136273 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29193116 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
0.003 ovarian carcinoma The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.006 Malignant neoplasm of ovary The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.002 ovarian carcinoma The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.007 Malignant neoplasm of ovary The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
Annotation

Annotations

DescrptionSourceLinks
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... 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
chr7:47,965,365-47,965,365
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
85.12
Standard deviation of sample read depth (HGVD)
39.51
Number of reference allele (HGVD)
1217
Number of alternative allele (HGVD)
1203
Allele Frequency (HGVD)
0.4971074380165289
Gene Symbol (HGVD)
HUS1
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))
rs1056663
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4995
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8371
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
4742
East Asian Heterozygous Counts (ExAC)
2192
East Asian Homozygous Counts (ExAC)
1275
East Asian Allele Frequency (ExAC)
0.549860853432282
Chromosome Counts in All Race (ExAC)
121310
Allele Counts in All Race (ExAC)
58718
Heterozygous Counts in All Race (ExAC)
29584
Homozygous Counts in All Race (ExAC)
14567
Allele Frequency in All Race (ExAC)
0.4840326436402605
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