chr3:41239897:T>G Detail (hg38) (CTNNB1)

Information

Genome

Assembly Position
hg19 chr3:41,281,388-41,281,388 View the variant detail on this assembly version.
hg38 chr3:41,239,897-41,239,897

HGVS

Type Transcript Protein
RefSeq NM_001904.3:c.*555T>G
NM_001098210.1:c.*91T>G
NM_001098209.1:c.*250T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.267
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 116806 OMIM
HGNC 2514 HGNC
Ensembl ENSG00000168036 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12176570 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-02-17 criteria provided, single submitter not provided germline 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
0.280 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
0.003 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_001904.4(CTNNB1):c.*555T>G AND not provided ClinVar 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
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 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
-
dbSNP
rs2953 dbSNP
Genome
hg38
Position
chr3:41,239,897-41,239,897
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))
rs2953
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2672
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4478
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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