chrX:153296087:CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT> Detail (hg19) (MECP2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:153,296,087-153,296,127
hg38	chrX:154,030,636-154,030,676

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.1152_1192delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG	NP_004983.1:p.Leu386HisfsTer5
	NM_001110792.1:c.1188_1228delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG	NP_001104262.1:p.Leu398HisfsTer5
	NM_001316337.1:c.564_524delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG
Ensemble	ENST00000303391.11:c.1152_1192delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG	ENST00000303391.11:p.Leu386HisfsTer5
	ENST00000407218.5:c.564_524delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG
	ENST00000415944.4:c.564_524delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG
	ENST00000453960.7:c.1188_1228delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG	ENST00000453960.7:p.Leu398HisfsTer5
	ENST00000628176.2:c.564_524delACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	2003-03-01	no assertion criteria provided	Rett syndrome, zappella variant	germline	Detail
Pathogenic	2022-03-24	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic Likely pathogenic	2024-03-22	criteria provided, multiple submitters, no conflicts	Rett syndrome	de novo germline maternal unknown	Detail
no classifications from unflagged records		no classifications from unflagged records	X-linked intellectual disability-psychosis-macroorchidism syndrome	germline	Detail
risk factor	2003-03-01	no assertion criteria provided	Autism, susceptibility to, X-linked 3	germline unknown	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	germline	Detail
Pathogenic	2022-11-11	criteria provided, multiple submitters, no conflicts		germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Mental Retardation, X-Linked, Syndromic 13	NA	CLINVAR		Detail
0.240	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)	NA	CLINVAR		Detail
0.800	Rett syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND Rett syndrome, zappella variant	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND X-linked intellectual disability-psychosis-mac...	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND Autism, susceptibility to, X-linked 3	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND Severe neonatal-onset encephalopathy with micr...	ClinVar	Detail
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) AND See cases	ClinVar	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: rs267608327 dbSNP
Genome: hg19
Position: chrX:153,296,087-153,296,127
Variant Type: snv
Reference Allele: CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT
Alternative Allele: -

Genome browser