chrX:45089829:A>G Detail (hg38) (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:44,949,074-44,949,074 View the variant detail on this assembly version.
hg38	chrX:45,089,829-45,089,829

HGVS

KDM6A

Type	Transcript	Protein
RefSeq	NM_021140.3:c.3635A>G	NP_066963.2:p.Gln1212Arg
	NM_001291416.1:c.3656A>G	NP_001278345.1:p.Gln1219Arg
	NM_001291417.1:c.3500A>G	NP_001278346.1:p.Gln1167Arg
	NM_001291418.1:c.3500A>G	NP_001278347.1:p.Gln1167Arg
	NM_001291421.1:c.3500A>G	NP_001278350.1:p.Gln1167Arg
	NR_111960.1:c.3398A>G
	NM_001291415.1:c.3791A>G	NP_001278344.1:p.Gln1264Arg
Ensemble	ENST00000377967.9:c.3635A>G	ENST00000377967.9:p.Gln1212Arg
	ENST00000382899.9:c.3656A>G	ENST00000382899.9:p.Gln1219Arg
	ENST00000536777.6:c.3500A>G	ENST00000536777.6:p.Gln1167Arg
	ENST00000543216.6:c.3398A>G	ENST00000543216.6:p.Gln1133Arg
	ENST00000611820.5:c.3791A>G	ENST00000611820.5:p.Gln1264Arg
	ENST00000674586.1:c.3713A>G	ENST00000674586.1:p.Gln1238Arg
	ENST00000674867.1:c.3497A>G	ENST00000674867.1:p.Gln1166Arg
	ENST00000683021.1:c.3554A>G	ENST00000683021.1:p.Gln1185Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-06-29	criteria provided, single submitter	Kabuki syndrome 2	germline	Detail
Likely pathogenic	2015-10-06	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.3791A>G (p.Gln1264Arg) AND Kabuki syndrome 2	ClinVar	Detail
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) 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: rs797045644 dbSNP
Genome: hg38
Position: chrX:45,089,829-45,089,829
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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