chr3:41266113:C>G Detail (hg19) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,113-41,266,113 |
hg38 | chr3:41,224,622-41,224,622 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.110C>G | NP_001895.1:p.Ser37Cys |
NM_001098209.1:c.110C>G | NP_001091679.1:p.Ser37Cys | |
NM_001098210.1:c.110C>G | NP_001091680.1:p.Ser37Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 25 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
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liver cell carcinoma |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Hepatocellular carcinoma (morphologic abnormality) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Cholangiocarcinoma of biliary tract (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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Non-small cell lung cancer |
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MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-07-14 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
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1999-04-01 | no assertion criteria provided | pilomatrixoma |
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Detail |
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no assertion criteria provided | not provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
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2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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Detail |
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
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Detail |
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2016-05-31 | no assertion criteria provided | medulloblastoma |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.482 | pilomatrixoma | NA | CLINVAR | Detail | |
0.241 | ovarian neoplasm | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Neoplasm of ovary | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Pilomatrixoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND not provided | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Carcinoma of esophagus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Medulloblastoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913403 dbSNP
- Genome
- hg19
- Position
- chr3:41,266,113-41,266,113
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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