chr3:41224607:A>T Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,098-41,266,098 View the variant detail on this assembly version. |
hg38 | chr3:41,224,607-41,224,607 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.95A>T | NP_001895.1:p.Asp32Val |
NM_001098210.1:c.95A>T | NP_001091680.1:p.Asp32Val | |
NM_001098209.1:c.95A>T | NP_001091679.1:p.Asp32Val |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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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2017/11/09 | Endometrioid adenocarcinoma |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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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 |
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Detail | |
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2015-07-14 | no assertion criteria provided | Endometrium neoplasm |
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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 | Neoplasm of uterine cervix |
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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 | 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 | medulloblastoma |
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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.95A>T (p.Asp32Val) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Endometrium neoplasm | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) AND Medulloblastoma | ClinVar | 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 |
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- Gene
- -
- dbSNP
- rs121913396 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,607-41,224,607
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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