Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Thr170Met (p.T170M)
(
ENST00000303391.11,
ENST00000415944.4,
ENST00000407218.5,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 ) - Associated Disease
- Severe neonatal-onset encephalopathy with microcephaly syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome
- Source Database
- ClinVar
- Description
- NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) AND multiple conditions
- ClinVar Allele ID
- 26850
- ClinVar RefSeq Alternation Syntax
- NM_001369394.2:c.194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386137.1:c.-129+41C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386138.1:c.-129+41C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316337.2:c.194C>T
- ClinVar RefSeq Alternation Syntax
- NM_004992.4:c.473C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369392.2:c.194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369393.2:c.194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001110792.2:c.509C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369391.2:c.194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001386139.1:c.-129+41C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763199
- ClinVar Disease
- Severe neonatal-onset encephalopathy with microcephaly
- ClinVar Disease
- Syndromic X-linked intellectual disability Lubs type
- ClinVar Disease
- Rett syndrome
- ClinVar Disease
- Autism, susceptibility to, X-linked 3
- ClinVar Disease
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs