chr10:123258034:A>T Detail (hg19) (FGFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:123,258,034-123,258,034 |
hg38 | chr10:121,498,520-121,498,520 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001144914.1:c.1311T>A | NP_001138386.1:p.Asn437Lys |
NM_001144917.1:c.1299T>A | NP_001138389.1:p.Asn433Lys | |
NM_001320654.1:c.963T>A | NP_001307583.1:p.Asn321Lys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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caecum |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
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Detail |
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2014-12-26 | no assertion criteria provided | Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
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Detail |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
endometrial cancer | PD173074 | D |
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Sensitivity/Response | Somatic | 3 | 18757403 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.125 | endometrial carcinoma | We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib ... | BeFree | 23908597 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The endometrial cancer cell lines, AN3CA and MFE296, which carry the N550K FGFR2 mutation, were foun... | CIViC Evidence | Detail |
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Nasopharyngeal neoplasm | ClinVar | Detail |
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Endometrial Endometrioid Adenocarcinoma, Variant with... | ClinVar | Detail |
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Breast neoplasm | ClinVar | Detail |
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib and identified 14 do... | 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
- rs121913476 dbSNP
- Genome
- hg19
- Position
- chr10:123,258,034-123,258,034
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- N550K
- Transcript 1 (CIViC Variant)
- ENST00000457416.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/545
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