chr3:41266137:C>A Detail (hg19) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,137-41,266,137 |
hg38 | chr3:41,224,646-41,224,646 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.134C>A | NP_001895.1:p.Ser45Tyr |
NM_001098210.1:c.134C>A | NP_001091680.1:p.Ser45Tyr | |
NM_001098209.1:c.134C>A | NP_001091679.1:p.Ser45Tyr |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | melanoma |
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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 | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
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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 |
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Detail | |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.283 | liver carcinoma | NA | CLINVAR | Detail | |
<0.001 | Fibromatosis, Aggressive | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... | BeFree | 23913621 | Detail |
<0.001 | Fibromatosis, Aggressive | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutati... | BeFree | 23913621 | Detail |
0.018 | Fibromatosis, Aggressive | CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid t... | BeFree | 24788118 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Lung adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Melanoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Adrenal cortex carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) AND Hepatocellular carcinoma | ClinVar | Detail |
NA | DisGeNET | Detail |
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... | DisGeNET | Detail |
A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (... | DisGeNET | Detail |
CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study... | 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 |
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- Gene
- -
- dbSNP
- rs121913409 dbSNP
- Genome
- hg19
- Position
- chr3:41,266,137-41,266,137
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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