chrX:78031440:ACGGA>NNNN Detail (hg38) (ATP7A, PGK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:77,286,938-77,286,942 View the variant detail on this assembly version. |
hg38 | chrX:78,031,440-78,031,444 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000052.6:c.3152_3156delinsNNNN | NP_000043.4:p.His1051?fsTer6 |
NM_001282224.1:c.3182_3186delinsNNNN | NP_001269153.1:p.His1061?fsTer6 | |
Ensemble | ENST00000341514.11:c.3152_3156delinsNNNN | ENST00000341514.11:p.His1051?fsTer6 |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000644362.1:c.-19-78427_-19-78423delinsNNNN |
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
- rs797045371 dbSNP
- Genome
- hg38
- Position
- chrX:78,031,440-78,031,444
- Variant Type
- snv
- Reference Allele
- ACGGA
- Alternative Allele
- NNNN
Genome browser