chrX:44923048:TCTA> 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:44,923,048-44,923,051
hg38	chrX:45,063,803-45,063,806

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NR_111960.1:c.1672_1675delTCTA
	NM_001291416.1:c.1930_1933delTCTA	NP_001278345.1:p.Ser644ThrfsTer53
	NM_001291417.1:c.1774_1777delTCTA	NP_001278346.1:p.Ser592ThrfsTer53
	NM_001291418.1:c.1774_1777delTCTA	NP_001278347.1:p.Ser592ThrfsTer53
	NM_001291421.1:c.1774_1777delTCTA	NP_001278350.1:p.Ser592ThrfsTer53
	NM_001291415.1:c.2065_2068delTCTA	NP_001278344.1:p.Ser689ThrfsTer53
	NM_021140.3:c.1909_1912delTCTA	NP_066963.2:p.Ser637ThrfsTer53
Ensemble	ENST00000543216.6:c.1672_1675delTCTA	ENST00000543216.6:p.Ser558ThrfsTer53
	ENST00000382899.9:c.1930_1933delTCTA	ENST00000382899.9:p.Ser644ThrfsTer53
	ENST00000536777.6:c.1774_1777delTCTA	ENST00000536777.6:p.Ser592ThrfsTer53
	ENST00000611820.5:c.2065_2068delTCTA	ENST00000611820.5:p.Ser689ThrfsTer53
	ENST00000674586.1:c.1987_1990delTCTA	ENST00000674586.1:p.Ser663ThrfsTer53
	ENST00000674867.1:c.1771_1774delTCTA	ENST00000674867.1:p.Ser591ThrfsTer53
	ENST00000683021.1:c.1828_1831delTCTA	ENST00000683021.1:p.Ser610ThrfsTer53
	ENST00000377967.9:c.1909_1912delTCTA	ENST00000377967.9:p.Ser637ThrfsTer53

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	COSM6977207	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	2013-09-01	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.2065_2068del (p.Ser689fs) 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: rs398122969 dbSNP
Genome: hg19
Position: chrX:44,923,048-44,923,051
Variant Type: snv
Reference Allele: TCTA
Alternative Allele: -

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