Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Ser216Ter (p.S216*)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Ser216Ter (p.S216*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) AND Inborn genetic diseases
- ClinVar Allele ID
- 101099
- ClinVar RefSeq Alternation Syntax
- NM_001369391.2:c.332C>G
- ClinVar RefSeq Alternation Syntax
- NM_001369392.2:c.332C>G
- ClinVar RefSeq Alternation Syntax
- NM_001386137.1:c.-59C>G
- ClinVar RefSeq Alternation Syntax
- NM_001369393.2:c.332C>G
- ClinVar RefSeq Alternation Syntax
- NM_001386139.1:c.-59C>G
- ClinVar RefSeq Alternation Syntax
- NM_004992.4:c.611C>G
- ClinVar RefSeq Alternation Syntax
- NM_001386138.1:c.-59C>G
- ClinVar RefSeq Alternation Syntax
- NM_001110792.2:c.647C>G
- ClinVar RefSeq Alternation Syntax
- NM_001316337.2:c.332C>G
- ClinVar RefSeq Alternation Syntax
- NM_001369394.2:c.332C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-06-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000623044
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs