chr3:41266098:A>G Detail (hg19) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,098-41,266,098 |
hg38 | chr3:41,224,607-41,224,607 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001904.3:c.95A>G | NP_001895.1:p.Asp32Gly |
NM_001098210.1:c.95A>G | NP_001091680.1:p.Asp32Gly | |
NM_001098209.1:c.95A>G | NP_001091679.1:p.Asp32Gly |
Summary
MGeND
Clinical significance |
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Variant entry | 6 |
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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ill-defined sites within the digestive system |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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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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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 melanoma of skin |
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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 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 | prostate adenocarcinoma |
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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 | hepatocellular carcinoma |
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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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2015-07-14 | no assertion criteria provided | melanoma |
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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>G (p.Asp32Gly) AND Pilomatrixoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND not provided | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Malignant melanoma of skin | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Medulloblastoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Hepatocellular carcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) AND Melanoma | 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
- rs121913396 dbSNP
- Genome
- hg19
- Position
- chr3:41,266,098-41,266,098
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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