KDM5C p.Leu781Gln (p.L781Q) Detail (hg38) (KDM5C)

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

Genome

Assembly	Position
hg19	chrX:53,227,972-53,227,972
hg38	chrX:53,198,790-53,198,790

HGVS

KDM5C

Type	Transcript	Protein
RefSeq	NM_001282622.1:c.2342T>A	NP_001269551.1:p.Leu781Gln
	NM_004187.3:c.2342T>A	NP_004178.2:p.Leu781Gln
	NM_001146702.1:c.2141T>A	NP_001140174.1:p.Leu714Gln
Ensemble	ENST00000375379.7:c.2342T>A	ENST00000375379.7:p.Leu781Gln
	ENST00000375383.7:c.2219T>A	ENST00000375383.7:p.Leu740Gln
	ENST00000375401.8:c.2342T>A	ENST00000375401.8:p.Leu781Gln
	ENST00000404049.7:c.2339T>A	ENST00000404049.7:p.Leu780Gln
	ENST00000452825.7:c.2141T>A	ENST00000452825.7:p.Leu714Gln
	ENST00000685641.1:c.2342T>A	ENST00000685641.1:p.Leu781Gln
	ENST00000688699.1:c.2342T>A	ENST00000688699.1:p.Leu781Gln
	ENST00000691505.1:c.2342T>A	ENST00000691505.1:p.Leu781Gln
	ENST00000693277.1:c.1847T>A	ENST00000693277.1:p.Leu616Gln

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

KDM5C

Type	Database	ID	Link
Gene	MIM	314690	OMIM
	HGNC	11114	HGNC
	Ensembl	ENSG00000126012	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		salivary gland neoplasms	somatic	MGS000044 (TMGS000097)	Kohei Miyazono	Tokyo 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: hg38
Position: chrX:53,198,790-53,198,790
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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