chrX:45083529:TCT> Detail (hg38) (KDM6A)

Information

Genome

Assembly Position
hg19 chrX:44,942,774-44,942,776 
hg38 chrX:45,083,529-45,083,531

HGVS

Type Transcript Protein
RefSeq NM_021140.3:c.3354_3356delTCT NP_066963.2:p.Leu1119del
NM_001291416.1:c.3375_3377delTCT NP_001278345.1:p.Leu1126del
NM_001291417.1:c.3219_3221delTCT NP_001278346.1:p.Leu1074del
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM255070 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic KABUKI SYNDROME 2; KABUK2 germline MGS000009
(TMGS000012)
Shoji Tsuji Tokyo University
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

DescrptionSourceLinks
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
hg38
Position
chrX:45,083,529-45,083,531
Variant Type
snv
Reference Allele
TCT
Alternative Allele
-
Genome browser