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 |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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KABUKI SYNDROME 2; KABUK2 |
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MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University | ||||
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other |
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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
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