chr17:37881392:A>G Detail (hg19) (ERBB2)

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

Genome

Assembly	Position
hg19	chr17:37,881,392-37,881,392
hg38	chr17:39,725,139-39,725,139 View the variant detail on this assembly version.

HGVS

ERBB2

Type	Transcript	Protein
RefSeq	NM_001289937.1:c.2584A>G	NP_001276866.1:p.Thr862Ala
	NM_001005862.2:c.2494A>G	NP_001005862.1:p.Thr832Ala
	NM_001289936.1:c.2494A>G	NP_001276865.1:p.Thr832Ala
	NM_004448.3:c.2584A>G	NP_004439.2:p.Thr862Ala
Ensemble	ENST00000584450.5:c.2584A>G	ENST00000584450.5:p.Thr862Ala
	ENST00000584601.5:c.2494A>G	ENST00000584601.5:p.Thr832Ala
	ENST00000541774.5:c.2539A>G	ENST00000541774.5:p.Thr847Ala
	ENST00000445658.6:c.1756A>G	ENST00000445658.6:p.Thr586Ala
	ENST00000269571.10:c.2584A>G	ENST00000269571.10:p.Thr862Ala
	ENST00000406381.6:c.2494A>G	ENST00000406381.6:p.Thr832Ala

Summary

MGeND

Clinical significance	not provided
Variant entry	7
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ERBB2

Type	Database	ID	Link
Gene	MIM	164870	OMIM
	HGNC	3430	HGNC
	Ensembl	ENSG00000141736	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5363941	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		transverse colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		sigmoid colon	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectosigmoid junction	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		transverse colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectosigmoid junction	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
stomach carcinoma	Lapatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	22046346	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Cell proliferation analysis showed that the ERBB2-H878Y mutant had the highest sensitivity against l...	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: chr17:37,881,392-37,881,392
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): T862A
Transcript 1 (CIViC Variant): ENST00000269571.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/871

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