chr3:41266104:G>T Detail (hg19) (CTNNB1, LOC126806658)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:41,266,104-41,266,104 |
| hg38 | chr3:41,224,613-41,224,613 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001098210.1:c.101G>T | NP_001091680.1:p.Gly34Val |
| NM_001098209.1:c.101G>T | NP_001091679.1:p.Gly34Val | |
| NM_001904.3:c.101G>T | NP_001895.1:p.Gly34Val |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 9 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
other |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
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
|
1999-01-15 | no assertion criteria provided | hepatoblastoma |
somatic
|
Detail |
Uncertain significance
|
no assertion criteria provided | Malignant tumor of prostate |
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 | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | craniopharyngioma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
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 |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
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>T (p.Gly34Val) AND Hepatoblastoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Malignant tumor of prostate | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Medulloblastoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Craniopharyngioma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Melanoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) AND Gastric adenocarcinoma | 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
- hg19
- Position
- chr3:41,266,104-41,266,104
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser