Annotation Detail
Information
- Associated Genes
- ATP7A
- Associated Variants
-
ATP7A p.Glu1127Ter (p.E1127*)
(
ENST00000341514.11,
ENST00000343533.10,
ENST00000685264.1,
ENST00000686033.1,
ENST00000686133.1,
ENST00000686543.1,
ENST00000687086.1,
ENST00000689767.1,
ENST00000692908.1,
ENST00000644362.1 )
ATP7A p.Glu1127Ter (p.E1127*) ( ENST00000341514.11, ENST00000343533.10, ENST00000685264.1, ENST00000686033.1, ENST00000686133.1, ENST00000686543.1, ENST00000687086.1, ENST00000689767.1, ENST00000692908.1, ENST00000644362.1 ) - Associated Disease
- Menkes kinky-hair syndrome
- Source Database
- ClinVar
- Description
- NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) AND Menkes kinky-hair syndrome
- ClinVar Allele ID
- 209276
- ClinVar RefSeq Alternation Syntax
- NM_000052.7:c.3379G>T
- ClinVar RefSeq Alternation Syntax
- NR_104109.2:n.552G>T
- ClinVar RefSeq Alternation Syntax
- NM_001282224.2:c.3145G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192748
- ClinVar Disease
- Menkes kinky-hair syndrome
- Observed Origin Sample
- germline
Drugs