chrX:44949156:G>A Detail (hg19) (KDM6A)

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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:44,949,156-44,949,156
hg38	chrX:45,089,911-45,089,911 View the variant detail on this assembly version.

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NM_001291417.1:c.3582G>A	NP_001278346.1:p.Trp1194Ter
	NM_001291418.1:c.3582G>A	NP_001278347.1:p.Trp1194Ter
	NM_001291421.1:c.3582G>A	NP_001278350.1:p.Trp1194Ter
	NR_111960.1:c.3480G>A
	NM_001291416.1:c.3738G>A	NP_001278345.1:p.Trp1246Ter
	NM_021140.3:c.3717G>A	NP_066963.2:p.Trp1239Ter
	NM_001291415.1:c.3873G>A	NP_001278344.1:p.Trp1291Ter
Ensemble	ENST00000536777.6:c.3582G>A	ENST00000536777.6:p.Trp1194Ter
	ENST00000543216.6:c.3480G>A	ENST00000543216.6:p.Trp1160Ter
	ENST00000382899.9:c.3738G>A	ENST00000382899.9:p.Trp1246Ter
	ENST00000377967.9:c.3717G>A	ENST00000377967.9:p.Trp1239Ter
	ENST00000611820.5:c.3873G>A	ENST00000611820.5:p.Trp1291Ter
	ENST00000674586.1:c.3795G>A	ENST00000674586.1:p.Trp1265Ter
	ENST00000674867.1:c.3579G>A	ENST00000674867.1:p.Trp1193Ter
	ENST00000683021.1:c.3636G>A	ENST00000683021.1:p.Trp1212Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

KDM6A

Type	Database	ID	Link
Gene	MIM	300128	OMIM
	HGNC	12637	HGNC
	Ensembl	ENSG00000147050	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
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-01-01	no assertion criteria provided	Kabuki syndrome 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Kabuki syndrome 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) AND Kabuki syndrome 2	ClinVar	Detail
NA	DisGeNET	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: -
dbSNP: rs398122929 dbSNP
Genome: hg19
Position: chrX:44,949,156-44,949,156
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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