chr3:41266101:C>A Detail (hg19) (CTNNB1, LOC126806658)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:41,266,101-41,266,101 |
| hg38 | chr3:41,224,610-41,224,610 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001098210.1:c.98C>A | NP_001091680.1:p.Ser33Tyr |
| NM_001098209.1:c.98C>A | NP_001091679.1:p.Ser33Tyr | |
| NM_001904.3:c.98C>A | NP_001895.1:p.Ser33Tyr |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1999-04-01 | no assertion criteria provided | Carcinoma of colon |
somatic
|
Detail |
|
Pathogenic
|
1999-04-01 | no assertion criteria provided | pilomatrixoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Endometrium neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.482 | pilomatrixoma | NA | CLINVAR | Detail | |
| 0.124 | colon carcinoma | NA | CLINVAR | Detail | |
| 0.367 | medulloblastoma | NA | CLINVAR | Detail | |
| <0.001 | Stromal Neoplasm | β-catenin (CTNNB1) S33C mutation in ovarian microcystic stromal tumors. | BeFree | 21881488 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Carcinoma of colon | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Pilomatrixoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Medulloblastoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Endometrium neoplasm | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Lung adenocarcinoma | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| β-catenin (CTNNB1) S33C mutation in ovarian microcystic stromal tumors. | 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
- rs121913400 dbSNP
- Genome
- hg19
- Position
- chr3:41,266,101-41,266,101
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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