chr3:41224613:G>A Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,104-41,266,104 View the variant detail on this assembly version. |
hg38 | chr3:41,224,613-41,224,613 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.101G>A | NP_001895.1:p.Gly34Glu |
NM_001098210.1:c.101G>A | NP_001091680.1:p.Gly34Glu | |
NM_001098209.1:c.101G>A | NP_001091679.1:p.Gly34Glu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
1999-04-01 | no assertion criteria provided | pilomatrixoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
![]() |
Detail |
![]() |
2015-07-14 | no assertion criteria provided | Neoplasm of ovary |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
![]() |
Detail |
![]() |
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
![]() |
Detail |
Likely pathogenic; other | 2016-05-31 | no assertion criteria provided | medulloblastoma |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.482 | pilomatrixoma | NA | CLINVAR | Detail | |
0.247 | hepatoblastoma | NA | CLINVAR | Detail | |
0.202 | Malignant neoplasm of prostate | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Pilomatrixoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Neoplasm of ovary | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Adrenal cortex carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Lung adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) AND Medulloblastoma | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs28931589 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,613-41,224,613
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120958
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.267332462507647E-6
Genome browser