chrX:78040696:G>A Detail (hg38) (ATP7A, PGK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:77,296,194-77,296,194 View the variant detail on this assembly version. |
hg38 | chrX:78,040,696-78,040,696 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000052.6:c.3764G>A | NP_000043.4:p.Gly1255Glu |
NM_001282224.1:c.3794G>A | NP_001269153.1:p.Gly1265Glu | |
Ensemble | ENST00000341514.11:c.3764G>A | ENST00000341514.11:p.Gly1255Glu |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000644362.1:c.-19-69171G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-02-08 | criteria provided, single submitter | Menkes kinky-hair syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.606 | Menkes Kinky Hair Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) AND Menkes kinky-hair syndrome | ClinVar | Detail |
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
- rs797045382 dbSNP
- Genome
- hg38
- Position
- chrX:78,040,696-78,040,696
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser