ACVR1B p.Glu453Lys (p.E453K) Detail (hg19) (ACVR1B)

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

Genome

Assembly	Position
hg19	chr12:52,380,699-52,380,699
hg38	chr12:51,986,915-51,986,915

HGVS

ACVR1B

Type	Transcript	Protein
RefSeq	NM_020327.3:c.1078G>A	NP_064732.3:p.Glu360Lys
	NM_004302.4:c.1234G>A	NP_004293.1:p.Glu412Lys
	NM_020328.3:c.1234G>A	NP_064733.3:p.Glu412Lys
Ensemble	ENST00000541224.5:c.1357G>A	ENST00000541224.5:p.Glu453Lys
	ENST00000415850.6:c.1234G>A	ENST00000415850.6:p.Glu412Lys
	ENST00000426655.6:c.1234G>A	ENST00000426655.6:p.Glu412Lys
	ENST00000542485.1:c.1078G>A	ENST00000542485.1:p.Glu360Lys
	ENST00000257963.9:c.1234G>A	ENST00000257963.9:p.Glu412Lys

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ACVR1B

Type	Database	ID	Link
Gene	MIM	601300	OMIM
	HGNC	172	HGNC
	Ensembl	ENSG00000135503	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
not provided		Adenocarcinoma of pancreas	unknown	MGS000023 (TMGS000082)	Manabu Muto	Kyoto University

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: chr12:52,380,699-52,380,699
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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