chr3:41224634:C>T Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:41,266,125-41,266,125 View the variant detail on this assembly version. |
| hg38 | chr3:41,224,634-41,224,634 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001904.3:c.122C>T | NP_001895.1:p.Thr41Ile |
| NM_001098210.1:c.122C>T | NP_001091680.1:p.Thr41Ile | |
| NM_001098209.1:c.122C>T | NP_001091679.1:p.Thr41Ile |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
2018/04/26 | uterine body cancer |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
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 | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
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 |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.482 | pilomatrixoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Pilomatrixoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) AND Malignant melanoma of skin | ClinVar | 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
- rs121913413 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,634-41,224,634
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser