chr4:153249385:G>C Detail (hg19) (FBXW7)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:153,249,385-153,249,385
hg38	chr4:152,328,233-152,328,233 View the variant detail on this assembly version.

HGVS

FBXW7

Type	Transcript	Protein
RefSeq	NM_033632.3:c.1393C>G	NP_361014.1:p.Arg465Gly
	NM_001013415.1:c.1039C>G	NP_001013433.1:p.Arg347Gly
Ensemble	ENST00000281708.10:c.1393C>G	ENST00000281708.10:p.Arg465Gly
	ENST00000296555.11:c.1039C>G	ENST00000296555.11:p.Arg347Gly
	ENST00000393956.9:c.1153C>G	ENST00000393956.9:p.Arg385Gly
	ENST00000603548.6:c.1393C>G	ENST00000603548.6:p.Arg465Gly
	ENST00000603841.1:c.1393C>G	ENST00000603841.1:p.Arg465Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

FBXW7

Type	Database	ID	Link
Gene	MIM	606278	OMIM
	HGNC	16712	HGNC
	Ensembl	ENSG00000109670	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	Carcinoma of esophagus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	medulloblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	B-cell chronic lymphocytic leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	adenoid cystic carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Carcinoma of esophagus	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Medulloblastoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Breast neoplasm	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Lung adenocarcinoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Neoplasm of the large intestine	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Adenoid cystic carcinoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Uterine carcinosarcoma	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND Gastric adenocarcinoma	ClinVar	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: rs867384286 dbSNP
Genome: hg19
Position: chr4:153,249,385-153,249,385
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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