chrX:77244039:AG> Detail (hg19) (ATP7A, PGK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:77,244,039-77,244,040 |
hg38 | chrX:77,988,543-77,988,544 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000052.6:c.422_423delAG | NP_000043.4:p.Glu141AlafsTer20 |
NM_001282224.1:c.452_453delAG | NP_001269153.1:p.Glu151AlafsTer20 | |
Ensemble | ENST00000341514.11:c.422_423delAG | ENST00000341514.11:p.Glu141AlafsTer20 |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000644362.1:c.-20+77707_-20+77708delAG |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.606 | Menkes Kinky Hair Syndrome | 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
- rs797045397 dbSNP
- Genome
- hg19
- Position
- chrX:77,244,039-77,244,040
- Variant Type
- snv
- Reference Allele
- AG
- Alternative Allele
- -
Genome browser