FANCL p.Phe307Ser (p.F307S) Detail (hg19) (FANCL)

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

Genome

Assembly	Position
hg19	chr2:58,390,029-58,390,029
hg38	chr2:58,162,894-58,162,894

HGVS

FANCL

Type	Transcript	Protein
RefSeq	NM_001114636.1:c.890T>C	NP_001108108.1:p.Phe297Ser
	NM_018062.3:c.875T>C	NP_060532.2:p.Phe292Ser
Ensemble	ENST00000427708.7:c.920T>C	ENST00000427708.7:p.Phe307Ser
	ENST00000446381.6:c.431T>C	ENST00000446381.6:p.Phe144Ser
	ENST00000403295.8:c.791T>C	ENST00000403295.8:p.Phe264Ser
	ENST00000402135.8:c.890T>C	ENST00000402135.8:p.Phe297Ser
	ENST00000449070.6:c.698T>C	ENST00000449070.6:p.Phe233Ser
	ENST00000233741.9:c.875T>C	ENST00000233741.9:p.Phe292Ser
	ENST00000696371.1:c.866T>C	ENST00000696371.1:p.Phe289Ser
	ENST00000696434.1:c.713T>C	ENST00000696434.1:p.Phe238Ser
	ENST00000696305.1:c.818T>C	ENST00000696305.1:p.Phe273Ser
	ENST00000696307.1:c.860T>C	ENST00000696307.1:p.Phe287Ser
	ENST00000696316.1:c.875T>C	ENST00000696316.1:p.Phe292Ser
	ENST00000696319.1:c.833T>C	ENST00000696319.1:p.Phe278Ser
	ENST00000696326.1:c.935T>C	ENST00000696326.1:p.Phe312Ser
	ENST00000696510.1:c.347T>C	ENST00000696510.1:p.Phe116Ser
	ENST00000696530.1:c.671T>C	ENST00000696530.1:p.Phe224Ser
	ENST00000696547.1:c.863T>C	ENST00000696547.1:p.Phe288Ser
	ENST00000696567.1:c.776-6T>C
	ENST00000696620.1:c.467T>C	ENST00000696620.1:p.Phe156Ser
	ENST00000696624.1:c.806T>C	ENST00000696624.1:p.Phe269Ser
	ENST00000696635.1:c.851T>C	ENST00000696635.1:p.Phe284Ser

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

FANCL

Type	Database	ID	Link
Gene	MIM	608111	OMIM
	HGNC	20748	HGNC
	Ensembl	ENSG00000115392	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2018/05/20	testis, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Uncertain significance	2018/05/20	malignant neoplasm of rectum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

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: -
Genome: hg19
Position: chr2:58,390,029-58,390,029
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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