chr1:8073509:C>A Detail (hg19) (ERRFI1)

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

Genome

Assembly	Position
hg19	chr1:8,073,509-8,073,509
hg38	chr1:8,013,449-8,013,449 View the variant detail on this assembly version.

HGVS

ERRFI1

Type	Transcript	Protein
RefSeq	NM_018948.3:c.1150G>T	NP_061821.1:p.Glu384Ter
Ensemble	ENST00000377482.10:c.1150G>T	ENST00000377482.10:p.Glu384Ter
	ENST00000474874.5:c.125+2046G>T
	ENST00000467067.1:c.*1821G>T

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

ERRFI1

Type	Database	ID	Link
Gene	MIM	608069	OMIM
	HGNC	18185	HGNC
	Ensembl	ENSG00000116285	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM912447	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cholangiocarcinoma	Erlotinib	C	Predictive	Supports	Sensitivity/Response	Somatic	2	24550739	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
An ERRFI1 (E384X) was detected in a patient with metastatic, recurrent/refractory cholangiocarcinoma...	CIViC Evidence	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: -
Genome: hg19
Position: chr1:8,073,509-8,073,509
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): E384*
Transcript 1 (CIViC Variant): ENST00000377482.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/691

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