chr5:112174763:A>T Detail (hg19) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,174,763-112,174,763 |
hg38 | chr5:112,839,066-112,839,066 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000038.5:c.3472A>T | NP_000029.2:p.Arg1158Ter |
NM_001127511.2:c.3418A>T | NP_001120983.2:p.Arg1140Ter | |
NM_001127510.2:c.3472A>T | NP_001120982.1:p.Arg1158Ter |
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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2014-03-17 | criteria provided, single submitter | not provided |
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Detail |
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2023-05-03 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-05-08 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) AND not provided | ClinVar | Detail |
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) AND Familial adenomatous polyposis 1 | 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
- rs587779790 dbSNP
- Genome
- hg19
- Position
- chr5:112,174,763-112,174,763
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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