BCOR p.Ser928ValfsTer8 (p.S928Vfs*8) Detail (hg19) (BCOR)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:39,931,818-39,931,818
hg38	chrX:40,072,565-40,072,565

HGVS

BCOR

Type	Transcript	Protein
RefSeq	NM_001123385.1:c.2781delC	NP_001116857.1:p.Ser928ValfsTer8
	NM_001123384.1:c.2781delC	NP_001116856.1:p.Ser928ValfsTer8
	NM_001123383.1:c.2781delC	NP_001116855.1:p.Ser928ValfsTer8
	NM_017745.5:c.2781delC	NP_060215.4:p.Ser928ValfsTer8
Ensemble	ENST00000406200.4:c.2781delC	ENST00000406200.4:p.Ser928ValfsTer8
	ENST00000378444.9:c.2781delC	ENST00000378444.9:p.Ser928ValfsTer8
	ENST00000378455.8:c.2781delC	ENST00000378455.8:p.Ser928ValfsTer8
	ENST00000342274.8:c.2781delC	ENST00000342274.8:p.Ser928ValfsTer8
	ENST00000397354.7:c.2781delC	ENST00000397354.7:p.Ser928ValfsTer8
	ENST00000413905.6:c.2781delC	ENST00000413905.6:p.Ser928ValfsTer8
	ENST00000427012.3:c.2781delC	ENST00000427012.3:p.Ser928ValfsTer8
	ENST00000442018.6:c.2781delC	ENST00000442018.6:p.Ser928ValfsTer8
	ENST00000615339.2:c.2781delC	ENST00000615339.2:p.Ser928ValfsTer8
	ENST00000672922.2:c.2781delC	ENST00000672922.2:p.Ser928ValfsTer8
	ENST00000673391.1:c.2781delC	ENST00000673391.1:p.Ser928ValfsTer8
	ENST00000679513.1:c.2781delC	ENST00000679513.1:p.Ser928ValfsTer8
	ENST00000680831.1:c.2781delC	ENST00000680831.1:p.Ser928ValfsTer8

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

BCOR

Type	Database	ID	Link
Gene	MIM	300485	OMIM
	HGNC	20893	HGNC
	Ensembl	ENSG00000183337	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		Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center

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: chrX:39,931,818-39,931,818
Variant Type: snv
Reference Allele: G
Alternative Allele: -

Genome browser