Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Arg795Ter (p.R795*)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686480.1,
ENST00000686543.1,
ENST00000686688.1,
ENST00000687086.1,
ENST00000689649.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000693398.1,
ENST00000644362.1 )
ATP7A p.Arg795Ter (p.R795*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686480.1, ENST00000686543.1, ENST00000686688.1, ENST00000687086.1, ENST00000689649.1, ENST00000689767.1, ENST00000692908.1, ENST00000693398.1, ENST00000644362.1 ) - Associated Disease
- Cutis laxa, X-linked Menkes kinky-hair syndrome X-linked distal spinal muscular atrophy type 3
- Source Database
- ClinVar
- Description
- NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) AND multiple conditions
- ClinVar Allele ID
- 209250
- ClinVar RefSeq Alternation Syntax
- NM_001282224.2:c.2172+1415C>T
- ClinVar RefSeq Alternation Syntax
- NM_000052.7:c.2383C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001274025
- ClinVar Disease
- X-linked distal spinal muscular atrophy type 3
- ClinVar Disease
- Menkes kinky-hair syndrome
- ClinVar Disease
- Cutis laxa, X-linked
- Observed Origin Sample
- germline
Drugs