Annotation Detail

Information

Associated Genes: MECP2
Associated Variants: MECP2 p.Pro401Ter (p.P401*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Pro401Ter (p.P401*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
Associated Disease: Rett syndrome Severe neonatal-onset encephalopathy with microcephaly X-linked intellectual disability-psychosis-macroorchidism syndrome Autism, susceptibility to, X-linked 3 syndromic X-linked intellectual disability Lubs type
Source Database: ClinVar
Description: NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions
ClinVar Allele ID: 153138
ClinVar RefSeq Alternation Syntax: NM_001369394.2:c.885_928del
ClinVar RefSeq Alternation Syntax: NM_001369393.2:c.885_928del
ClinVar RefSeq Alternation Syntax: NM_001369391.2:c.885_928del
ClinVar RefSeq Alternation Syntax: NM_004992.4:c.1164_1207del
ClinVar RefSeq Alternation Syntax: NM_001316337.2:c.885_928del
ClinVar RefSeq Alternation Syntax: NM_001369392.2:c.885_928del
ClinVar RefSeq Alternation Syntax: NM_001386137.1:c.495_538del
ClinVar RefSeq Alternation Syntax: NM_001386138.1:c.495_538del
ClinVar RefSeq Alternation Syntax: NM_001110792.2:c.1200_1243del
ClinVar RefSeq Alternation Syntax: NM_001386139.1:c.495_538del
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2021-11-11
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000768267
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: de novo

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