chr5:112839543:G>C Detail (hg38) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,175,240-112,175,240 View the variant detail on this assembly version. |
hg38 | chr5:112,839,543-112,839,543 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000038.5:c.3949G>C | NP_000029.2:p.Glu1317Gln |
NM_001127511.2:c.3895G>C | NP_001120983.2:p.Glu1299Gln | |
NM_001127510.2:c.3949G>C | NP_001120982.1:p.Glu1317Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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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2023-08-22 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 1 |
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Detail |
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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2018-03-06 | criteria provided, single submitter | APC-Associated Polyposis Disorders |
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Detail |
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2023-06-02 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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no assertion criteria provided | Carcinoma of colon |
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Detail | |
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no assertion provided | familial adenomatous polyposis 1 |
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Detail | |
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2024-02-01 | criteria provided, single submitter | 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 | |
0.120 | Polyposis, Adenomatous Intestinal | NA | CLINVAR | Detail | |
0.076 | colorectal carcinoma | To this end, sequence analysis was carried out of the APC gene in order to ident... | BeFree | 11267860 | Detail |
0.076 | colorectal carcinoma | This study seeks to determine whether there is any association of the I1307K, E1... | BeFree | 18343606 | Detail |
0.241 | Colorectal Neoplasms | The APC variants I1307K and E1317Q are associated with colorectal tumors, but no... | BeFree | 9724771 | Detail |
0.139 | Adenoma of large intestine | The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcino... | BeFree | 15266213 | Detail |
0.240 | colorectal cancer | This study seeks to determine whether there is any association of the I1307K, E1... | BeFree | 18343606 | Detail |
0.240 | colorectal cancer | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca... | BeFree | 15929773 | Detail |
0.076 | colorectal carcinoma | Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca... | BeFree | 15929773 | Detail |
0.240 | colorectal cancer | To this end, sequence analysis was carried out of the APC gene in order to ident... | BeFree | 11267860 | Detail |
0.139 | Adenoma of large intestine | The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mecha... | BeFree | 19701947 | Detail |
0.127 | Adenomatous Polyps | The APC E1317Q variant in adenomatous polyps and colorectal cancers. | BeFree | 14578138 | Detail |
0.139 | Adenoma of large intestine | The APC E1317Q variant is associated with colorectal neoplasia, particularly col... | BeFree | 19474113 | Detail |
0.191 | adenoma | In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 ... | BeFree | 14578138 | Detail |
0.240 | colorectal cancer | The APC E1317Q variant in adenomatous polyps and colorectal cancers. | BeFree | 14578138 | Detail |
0.777 | Adenomatous Polyposis Coli | Reports of the risk of colorectal neoplasia associated with a variant of the ade... | BeFree | 19474113 | Detail |
0.139 | Adenoma of large intestine | Germline APC variants in patients with multiple colorectal adenomas, with eviden... | BeFree | 11001924 | Detail |
0.047 | Carcinogenesis | These data support a novel mechanism in which p.Glu1317Gln in combination with o... | BeFree | 19701947 | Detail |
0.139 | Adenoma of large intestine | Prevalence of the E1317Q variant of the APC gene in Italian patients with colore... | BeFree | 12537656 | Detail |
0.007 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | We compared the patterns of somatic APC mutations in tumors from patients with a... | BeFree | 19701947 | Detail |
0.004 | Hyperplastic Polyp | Four patients had a germ-line E1317Q missense variant of APC that was not presen... | BeFree | 9724771 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND not provided | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND not specified | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND APC-Associated Polyposis Disorders | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Carcinoma of colon | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E... | DisGeNET | Detail |
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari... | DisGeNET | Detail |
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a fami... | DisGeNET | Detail |
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, b... | DisGeNET | Detail |
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari... | DisGeNET | Detail |
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | DisGeNET | Detail |
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. | DisGeNET | Detail |
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E... | DisGeNET | Detail |
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the... | DisGeNET | Detail |
The APC E1317Q variant in adenomatous polyps and colorectal cancers. | DisGeNET | Detail |
The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, bu... | DisGeNET | Detail |
In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, a... | DisGeNET | Detail |
The APC E1317Q variant in adenomatous polyps and colorectal cancers. | DisGeNET | Detail |
Reports of the risk of colorectal neoplasia associated with a variant of the adenomatous polyposis c... | DisGeNET | Detail |
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particula... | DisGeNET | Detail |
These data support a novel mechanism in which p.Glu1317Gln in combination with other weak mutant APC... | DisGeNET | Detail |
Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. | DisGeNET | Detail |
We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial a... | DisGeNET | Detail |
Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one o... | 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
- rs1801166 dbSNP
- Genome
- hg38
- Position
- chr5:112,839,543-112,839,543
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121152
- Allele Counts in All Race (ExAC)
- 500
- Heterozygous Counts in All Race (ExAC)
- 488
- Homozygous Counts in All Race (ExAC)
- 6
- Allele Frequency in All Race (ExAC)
- 0.004127047015319599
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