chr3:41224645:TCT> Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:41,266,136-41,266,138 |
hg38 | chr3:41,224,645-41,224,647 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001098210.1:c.133_135delTCT | NP_001091680.1:p.Ser45del |
NM_001904.3:c.133_135delTCT | NP_001895.1:p.Ser45del | |
NM_001098209.1:c.133_135delTCT | NP_001091679.1:p.Ser45del |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Pathogenic; other |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
colorectal neoplasms, hereditary nonpolyposis |
![]() |
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.124 | colon carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) AND Carcinoma of colon | ClinVar | Detail |
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) AND Nephroblastoma | 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
- rs587776850 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,645-41,224,647
- Variant Type
- snv
- Reference Allele
- TCT
- Alternative Allele
- -
Genome browser