chrX:44942774:TCT> 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:44,942,774-44,942,776
hg38	chrX:45,083,529-45,083,531

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NM_021140.3:c.3354_3356delTCT	NP_066963.2:p.Leu1119del
	NM_001291417.1:c.3219_3221delTCT	NP_001278346.1:p.Leu1074del
	NM_001291418.1:c.3219_3221delTCT	NP_001278347.1:p.Leu1074del
	NM_001291421.1:c.3219_3221delTCT	NP_001278350.1:p.Leu1074del
	NR_111960.1:c.3117_3119delTCT
	NM_001291416.1:c.3375_3377delTCT	NP_001278345.1:p.Leu1126del
	NM_001291415.1:c.3510_3512delTCT	NP_001278344.1:p.Leu1171del
Ensemble	ENST00000377967.9:c.3354_3356delTCT	ENST00000377967.9:p.Leu1119del
	ENST00000536777.6:c.3219_3221delTCT	ENST00000536777.6:p.Leu1074del
	ENST00000543216.6:c.3117_3119delTCT	ENST00000543216.6:p.Leu1040del
	ENST00000382899.9:c.3375_3377delTCT	ENST00000382899.9:p.Leu1126del
	ENST00000611820.5:c.3510_3512delTCT	ENST00000611820.5:p.Leu1171del
	ENST00000674586.1:c.3432_3434delTCT	ENST00000674586.1:p.Leu1145del
	ENST00000674867.1:c.3216_3218delTCT	ENST00000674867.1:p.Leu1073del
	ENST00000683021.1:c.3273_3275delTCT	ENST00000683021.1:p.Leu1092del

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM255070	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

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: rs398122829 dbSNP
Genome: hg19
Position: chrX:44,942,774-44,942,776
Variant Type: snv
Reference Allele: TCT
Alternative Allele: -

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