chr9:35078719:C>A Detail (hg19) (FANCG)

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

Genome

Assembly	Position
hg19	chr9:35,078,719-35,078,719
hg38	chr9:35,078,722-35,078,722 View the variant detail on this assembly version.

HGVS

FANCG

Type	Transcript	Protein
RefSeq	NM_004629.1:c.190G>T	NP_004620.1:p.Val64Phe
Ensemble	ENST00000378643.8:c.190G>T	ENST00000378643.8:p.Val64Phe
	ENST00000448890.2:c.190G>T	ENST00000448890.2:p.Val64Phe
	ENST00000696710.1:c.190G>T	ENST00000696710.1:p.Val64Phe
	ENST00000696715.1:c.190G>T	ENST00000696715.1:p.Val64Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

FANCG

Type	Database	ID	Link
Gene	MIM	602956	OMIM
	HGNC	3588	HGNC
	Ensembl	ENSG00000221829	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.156	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.005	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.004	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.002	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.012	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.004	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail

Annotation

Annotations

Descrption	Source	Links
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	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: rs34821298 dbSNP
Genome: hg19
Position: chr9:35,078,719-35,078,719
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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