chr17:7679765:G>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,583,083-7,583,083 View the variant detail on this assembly version.
hg38 chr17:7,679,765-7,679,765

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.-28-3143C>T
NM_001126112.2:c.-28-3143C>T
NM_001276760.1:c.-28-3143C>T
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56958044 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
<0.001 schizophrenia Though rs1042522 and rs8064946 did not show positive association with schizophre... BeFree 15450681 Detail
Annotation

Annotations

DescrptionSourceLinks
Though rs1042522 and rs8064946 did not show positive association with schizophrenia, we did observe ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2078486 dbSNP
Genome
hg38
Position
chr17:7,679,765-7,679,765
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))
rs2078486
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2627
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4403
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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