Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Ala152Val (p.A152V)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Ala152Val (p.A152V) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- Source Database
- ClinVar
- Description
- NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND X-linked intellectual disability-psychosis-macroorchidism syndrome
- ClinVar Allele ID
- 26862
- ClinVar RefSeq Alternation Syntax
- NM_001386138.1:c.-142C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386139.1:c.-142C>T
- ClinVar RefSeq Alternation Syntax
- NM_001110792.2:c.455C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316337.2:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369394.2:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_004992.4:c.419C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386137.1:c.-142C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369393.2:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369391.2:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369392.2:c.140C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012596
- ClinVar Disease
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 11885030
- Pubmed
- 12325019
- Pubmed
- 11071498
- Pubmed
- 11309367
- Pubmed
- 11772708
- Pubmed
- 11007980
- Pubmed
- 11805248
Drugs