chr17:7689462:G>A Detail (hg38) (WRAP53)

Information

Genome

Assembly Position
hg19 chr17:7,592,780-7,592,780 View the variant detail on this assembly version.
hg38 chr17:7,689,462-7,689,462

HGVS

Type Transcript Protein
RefSeq NM_001143992.1:c.531-128G>A
NM_018081.2:c.531-128G>A
NM_001143990.1:c.531-128G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.263
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 612661 OMIM
HGNC 25522 HGNC
Ensembl ENSG00000141499 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56958437 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-07-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.123 Malignant neoplasm of ovary In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association... BeFree 23192612 Detail
0.085 ovarian carcinoma In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association... BeFree 23192612 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001143992.2(WRAP53):c.531-128G>A AND not provided ClinVar Detail
In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian can... DisGeNET Detail
In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian can... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2287497 dbSNP
Genome
hg38
Position
chr17:7,689,462-7,689,462
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2287497
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2632
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4411
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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