Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Pro396Leu (p.P396L)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Pro396Leu (p.P396L) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Severe neonatal-onset encephalopathy with microcephaly
- Source Database
- ClinVar
- Description
- NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND Severe neonatal-onset encephalopathy with microcephaly
- ClinVar Allele ID
- 45152
- ClinVar RefSeq Alternation Syntax
- NM_001386139.1:c.482C>T
- ClinVar RefSeq Alternation Syntax
- NM_004992.4:c.1151C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386138.1:c.482C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369391.2:c.872C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369394.2:c.872C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316337.2:c.872C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369392.2:c.872C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369393.2:c.872C>T
- ClinVar RefSeq Alternation Syntax
- NM_001110792.2:c.1187C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386137.1:c.482C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000822137
- ClinVar Disease
- Severe neonatal-onset encephalopathy with microcephaly
- Observed Origin Sample
- germline
Drugs