chrX:44949177:T>C 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:44,949,177-44,949,177
hg38	chrX:45,089,932-45,089,932 View the variant detail on this assembly version.

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NR_111960.1:c.3499+2T>C
	NM_001291415.1:c.3892+2T>C
	NM_021140.3:c.3736+2T>C
	NM_001291416.1:c.3757+2T>C
	NM_001291417.1:c.3601+2T>C
	NM_001291418.1:c.3601+2T>C
	NM_001291421.1:c.3601+2T>C
Ensemble	ENST00000543216.6:c.3499+2T>C
	ENST00000611820.5:c.3892+2T>C
	ENST00000674586.1:c.3814+2T>C
	ENST00000674867.1:c.3598+2T>C
	ENST00000683021.1:c.3655+2T>C
	ENST00000377967.9:c.3736+2T>C
	ENST00000382899.9:c.3757+2T>C
	ENST00000536777.6:c.3601+2T>C

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM5696749	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-02-04	no assertion criteria provided	Kabuki syndrome 2	unknown	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.3892+2T>C AND Kabuki syndrome 2	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs793888510 dbSNP
Genome: hg19
Position: chrX:44,949,177-44,949,177
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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