chr5:112751630:T>G Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,087,327-112,087,327 View the variant detail on this assembly version.
hg38 chr5:112,751,630-112,751,630

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.-18-3243T>G
NM_001127511.2:c.166-14696T>G
NM_001127510.2:c.-18-3243T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.845
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance other
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22326275 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other no assertion criteria provided Familial colorectal cancer unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.201 Malignant neoplasm of ovary We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
0.002 ovarian carcinoma Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP f... BeFree 24078348 Detail
0.280 Malignant neoplasm of ovary We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
<0.001 ovarian carcinoma We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
0.082 Malignant neoplasm of ovary Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP f... BeFree 24078348 Detail
0.003 Malignant neoplasm of ovary We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
0.002 ovarian carcinoma We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
0.082 ovarian carcinoma We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-cate... BeFree 24078348 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.-18-3243T>G AND Familial colorectal cancer ClinVar Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail
Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish... DisGeNET Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail
Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish... DisGeNET Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11954856 dbSNP
Genome
hg38
Position
chr5:112,751,630-112,751,630
Variant Type
snv
Reference Allele
T
Alternative Allele
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))
rs11954856
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8451
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14164
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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