chr2:29432625:C>A Detail (hg19) (ALK)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:29,432,625-29,432,625 |
hg38 | chr2:29,209,759-29,209,759 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004304.4:c.3836+27G>T | |
Ensemble | ENST00000389048.8:c.3836+27G>T | |
ENST00000618119.4:c.2705+27G>T |
Summary
MGeND
Clinical significance |
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Variant entry | 1,848 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.104 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.057 |
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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cervical part of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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abdominal part of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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middle third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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lower third of oesophagus |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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oesophagus, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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stomach, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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duodenum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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small intestine, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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liver cell carcinoma |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of gallbladder |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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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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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
middle third of oesophagus |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
lower third of oesophagus |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
oesophagus, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
fundus of stomach |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
body of stomach |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
pyloric antrum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
stomach, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
duodenum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
jejunum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
small intestine, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
caecum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
appendix |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ascending colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
transverse colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
descending colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
sigmoid colon |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
colon, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectosigmoid junction |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of rectum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
anal canal |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
liver cell carcinoma |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
intrahepatic bile duct carcinoma |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
malignant neoplasm of gallbladder |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
extrahepatic bile duct |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ampulla of vater |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
head of pancreas |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
body of pancreas |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
tail of pancreas |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ill-defined sites within the digestive system |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
bronchus or lung, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2018-06-23 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3738868 dbSNP
- Genome
- hg19
- Position
- chr2:29,432,625-29,432,625
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs3738868
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.104
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1743
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8500
- East Asian Allele Counts (ExAC)
- 481
- East Asian Heterozygous Counts (ExAC)
- 445
- East Asian Homozygous Counts (ExAC)
- 18
- East Asian Allele Frequency (ExAC)
- 0.05658823529411765
- Chromosome Counts in All Race (ExAC)
- 119374
- Allele Counts in All Race (ExAC)
- 3826
- Heterozygous Counts in All Race (ExAC)
- 3044
- Homozygous Counts in All Race (ExAC)
- 391
- Allele Frequency in All Race (ExAC)
- 0.03205053026622213
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