Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg318Cys (p.R318C)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Arg318Cys (p.R318C) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Angelman syndrome
- Source Database
- ClinVar
- Description
- NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Angelman syndrome
- ClinVar Allele ID
- 26863
- ClinVar RefSeq Alternation Syntax
- NM_001369393.2:c.637C>T
- ClinVar RefSeq Alternation Syntax
- NM_001110792.2:c.952C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316337.2:c.637C>T
- ClinVar RefSeq Alternation Syntax
- NM_004992.4:c.916C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386137.1:c.247C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386138.1:c.247C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386139.1:c.247C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369394.2:c.637C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369392.2:c.637C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369391.2:c.637C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-02-20
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000202468
- ClinVar Disease
- Angelman syndrome
- Observed Origin Sample
- germline
Drugs