chrX:45089932:T>C Detail (hg38) (KDM6A)

Information

Genome

Assembly Position
hg19 chrX:44,949,177-44,949,177 View the variant detail on this assembly version.
hg38 chrX:45,089,932-45,089,932

HGVS

Type Transcript Protein
RefSeq NM_021140.3:c.3736+2T>C
NM_001291416.1:c.3757+2T>C
NM_001291417.1: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
Show details
Links
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

DescrptionSourceLinks
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
hg38
Position
chrX:45,089,932-45,089,932
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser