Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Asn1304Ser (p.N1304S)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686543.1,
ENST00000687086.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000644362.1 )
ATP7A p.Asn1304Ser (p.N1304S) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 ) - Associated Disease
- Cutis laxa, X-linked
- Source Database
- ClinVar
- Description
- NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) AND Cutis laxa, X-linked
- ClinVar Allele ID
- 26831
- ClinVar RefSeq Alternation Syntax
- NM_000052.7:c.3911A>G
- ClinVar RefSeq Alternation Syntax
- NR_104109.2:n.1084A>G
- ClinVar RefSeq Alternation Syntax
- NM_001282224.2:c.3677A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2016-01-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012559
- ClinVar Disease
- Cutis laxa, X-linked
- Observed Origin Sample
- germline
- Pubmed
- 17108763
Drugs