chr5:112839987:AG> Detail (hg38) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,175,684-112,175,685 |
hg38 | chr5:112,839,987-112,839,988 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000038.5:c.4393_4394delAG | NP_000029.2:p.Ser1465TrpfsTer3 |
NM_001127511.2:c.4339_4340delAG | NP_001120983.2:p.Ser1447TrpfsTer3 | |
NM_001127510.2:c.4393_4394delAG | NP_001120982.1:p.Ser1465TrpfsTer3 |
Summary
MGeND
Clinical significance |
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Variant entry | 5 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2021/10/28 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/10/28 | malignant neoplasm of rectum |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2021/10/28 | other |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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colorectal neoplasms, hereditary nonpolyposis |
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MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.245 | Gardner syndrome | NA | CLINVAR | Detail |
Annotation
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
- rs387906234 dbSNP
- Genome
- hg38
- Position
- chr5:112,839,987-112,839,988
- Variant Type
- snv
- Reference Allele
- AG
- Alternative Allele
- -
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