chrX:77276579:AAGT> Detail (hg19) (ATP7A, PGK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:77,276,579-77,276,582 |
hg38 | chrX:78,021,082-78,021,085 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000052.6:c.2916+3_2916+6delAAGT | |
NM_001282224.1:c.2946+3_2946+6delAAGT | ||
Ensemble | ENST00000341514.11:c.2916+3_2916+6delAAGT |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000644362.1:c.-19-88785_-19-88782delAAGT |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
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 |
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2021-11-22 | criteria provided, single submitter | X-linked distal spinal muscular atrophy type 3,Menkes kinky-hair syndrome,Cutis laxa, X-linked |
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Detail |
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2021-11-22 | criteria provided, single submitter | X-linked distal spinal muscular atrophy type 3,Menkes kinky-hair syndrome,Cutis laxa, X-linked |
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Detail |
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2021-11-22 | criteria provided, single submitter | X-linked distal spinal muscular atrophy type 3,Menkes kinky-hair syndrome,Cutis laxa, X-linked |
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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.2916+3_2916+6del AND Menkes kinky-hair syndrome | ClinVar | Detail |
NM_000052.7(ATP7A):c.2916+3_2916+6del AND multiple conditions | ClinVar | Detail |
NM_000052.7(ATP7A):c.2916+3_2916+6del AND multiple conditions | ClinVar | Detail |
NM_000052.7(ATP7A):c.2916+3_2916+6del AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs797045364 dbSNP
- Genome
- hg19
- Position
- chrX:77,276,579-77,276,582
- Variant Type
- snv
- Reference Allele
- AAGT
- Alternative Allele
- -
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