chrX:44929415:AACA> 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:44,929,415-44,929,418
hg38	chrX:45,070,170-45,070,173

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NM_021140.3:c.2515_2518delAACA	NP_066963.2:p.Asn839ValfsTer27
	NM_001291416.1:c.2536_2539delAACA	NP_001278345.1:p.Asn846ValfsTer27
	NM_001291417.1:c.2380_2383delAACA	NP_001278346.1:p.Asn794ValfsTer27
	NM_001291418.1:c.2380_2383delAACA	NP_001278347.1:p.Asn794ValfsTer27
	NM_001291421.1:c.2380_2383delAACA	NP_001278350.1:p.Asn794ValfsTer27
	NR_111960.1:c.2278_2281delAACA
	NM_001291415.1:c.2671_2674delAACA	NP_001278344.1:p.Asn891ValfsTer27
Ensemble	ENST00000377967.9:c.2515_2518delAACA	ENST00000377967.9:p.Asn839ValfsTer27
	ENST00000382899.9:c.2536_2539delAACA	ENST00000382899.9:p.Asn846ValfsTer27
	ENST00000536777.6:c.2380_2383delAACA	ENST00000536777.6:p.Asn794ValfsTer27
	ENST00000543216.6:c.2278_2281delAACA	ENST00000543216.6:p.Asn760ValfsTer27
	ENST00000611820.5:c.2671_2674delAACA	ENST00000611820.5:p.Asn891ValfsTer27
	ENST00000674586.1:c.2593_2596delAACA	ENST00000674586.1:p.Asn865ValfsTer27
	ENST00000674867.1:c.2377_2380delAACA	ENST00000674867.1:p.Asn793ValfsTer27
	ENST00000683021.1:c.2434_2437delAACA	ENST00000683021.1:p.Asn812ValfsTer27

Summary

MGeND

Clinical significance
Variant entry
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	COSM5711655	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-05-01	no assertion criteria provided	Kabuki syndrome 2	germline	Detail
Pathogenic	2018-12-31	criteria provided, single submitter	not provided	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.2671_2674del (p.Asn891fs) AND Kabuki syndrome 2	ClinVar	Detail
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) AND not provided	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: rs786205676 dbSNP
Genome: hg19
Position: chrX:44,929,415-44,929,418
Variant Type: snv
Reference Allele: AACA
Alternative Allele: -

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