chrX:153296078:TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC> Detail (hg19) (MECP2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chrX:153,296,078-153,296,121
hg38	chrX:154,030,627-154,030,670

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.1158_1201delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA	NP_004983.1:p.Pro389Ter
	NM_001110792.1:c.1194_1237delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA	NP_001104262.1:p.Pro401Ter
	NM_001316337.1:c.573_530delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA
Ensemble	ENST00000303391.11:c.1158_1201delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA	ENST00000303391.11:p.Pro389Ter
	ENST00000407218.5:c.573_530delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA
	ENST00000415944.4:c.573_530delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA
	ENST00000453960.7:c.1194_1237delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA	ENST00000453960.7:p.Pro401Ter
	ENST00000628176.2:c.573_530delGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MECP2

Type	Database	ID	Link
Gene	MIM	300005	OMIM
	HGNC	6990	HGNC
	Ensembl	ENSG00000169057	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-05-01	no assertion criteria provided	Rett syndrome, zappella variant	germline	Detail
Pathogenic	2023-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-01-01	criteria provided, single submitter	Autism, susceptibility to, X-linked 3	unknown	Detail
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	Severe neonatal-onset encephalopathy with microcephaly	germline maternal	Detail
Pathogenic	2021-01-20	criteria provided, single submitter	X-linked intellectual disability-psychosis-macroorchidism syndrome	de novo germline maternal	Detail
Pathogenic	2021-03-24	reviewed by expert panel	Rett syndrome	de novo germline maternal unknown	Detail
Pathogenic	2014-03-07	criteria provided, single submitter		unknown	Detail
Pathogenic	2016-08-15	criteria provided, single submitter	Smith-Magenis Syndrome-like	inherited	Detail
Pathogenic	2015-04-30	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2021-11-11	criteria provided, multiple submitters, no conflicts	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	de novo germline	Detail
Pathogenic	2021-11-11	criteria provided, multiple submitters, no conflicts	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	de novo germline	Detail
Pathogenic	2021-11-11	criteria provided, multiple submitters, no conflicts	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	de novo germline	Detail
Pathogenic	2021-11-11	criteria provided, multiple submitters, no conflicts	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	de novo germline	Detail
Pathogenic	2021-11-11	criteria provided, multiple submitters, no conflicts	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	de novo germline	Detail
Pathogenic	2018-09-13	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2021-04-26	criteria provided, single submitter		de novo	Detail
Pathogenic	2024-03-25	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type	germline	Detail
Pathogenic	2023-07-06	criteria provided, multiple submitters, no conflicts	MECP2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.480	Mental Retardation, X-Linked, Syndromic 13	NA	CLINVAR	Detail
0.240	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)	NA	CLINVAR	Detail
0.360	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	NA	CLINVAR	Detail
0.800	Rett syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Rett syndrome, zappella variant	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Autism, susceptibility to, X-linked...	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Severe neonatal-onset encephalopath...	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND X-linked intellectual disability-ps...	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Smith-Magenis Syndrome-like	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Inborn genetic diseases	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND not specified	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND See cases	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND Syndromic X-linked intellectual dis...	ClinVar	Detail
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) AND MECP2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs61752992 dbSNP
Genome: hg19
Position: chrX:153,296,078-153,296,121
Variant Type: snv
Reference Allele: TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC
Alternative Allele: -

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