chrX:44922682:G> 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:44,922,682-44,922,682
hg38	chrX:45,063,437-45,063,437

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NM_021140.3:c.1543delG	NP_066963.2:p.Val515LeufsTer33
	NM_001291416.1:c.1564delG	NP_001278345.1:p.Val522LeufsTer33
	NM_001291417.1:c.1408delG	NP_001278346.1:p.Val470LeufsTer33
	NM_001291418.1:c.1408delG	NP_001278347.1:p.Val470LeufsTer33
	NM_001291421.1:c.1408delG	NP_001278350.1:p.Val470LeufsTer33
	NR_111960.1:c.1306delG
	NM_001291415.1:c.1699delG	NP_001278344.1:p.Val567LeufsTer33
Ensemble	ENST00000377967.9:c.1543delG	ENST00000377967.9:p.Val515LeufsTer33
	ENST00000382899.9:c.1564delG	ENST00000382899.9:p.Val522LeufsTer33
	ENST00000536777.6:c.1408delG	ENST00000536777.6:p.Val470LeufsTer33
	ENST00000543216.6:c.1306delG	ENST00000543216.6:p.Val436LeufsTer33
	ENST00000611820.5:c.1699delG	ENST00000611820.5:p.Val567LeufsTer33
	ENST00000674586.1:c.1621delG	ENST00000674586.1:p.Val541LeufsTer33
	ENST00000674867.1:c.1405delG	ENST00000674867.1:p.Val469LeufsTer33
	ENST00000683021.1:c.1462delG	ENST00000683021.1:p.Val488LeufsTer33

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-07	criteria provided, single submitter	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.1699del (p.Val567fs) 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: rs797045642 dbSNP
Genome: hg19
Position: chrX:44,922,682-44,922,682
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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