chrX:154030689:ACGGGGGC> Detail (hg38) (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:153,296,140-153,296,147
hg38	chrX:154,030,689-154,030,696

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.1132_1139delGCCCCCGT	NP_004983.1:p.Pro379ThrfsTer11
	NM_001110792.1:c.1168_1175delGCCCCCGT	NP_001104262.1:p.Pro391ThrfsTer11
	NM_001316337.1:c.511_504delGCCCCCGT
Ensemble	ENST00000303391.11:c.1132_1139delGCCCCCGT	ENST00000303391.11:p.Pro379ThrfsTer11
	ENST00000407218.5:c.511_504delGCCCCCGT
	ENST00000415944.4:c.511_504delGCCCCCGT
	ENST00000453960.7:c.1168_1175delGCCCCCGT	ENST00000453960.7:p.Pro391ThrfsTer11
	ENST00000628176.2:c.511_504delGCCCCCGT

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	2005-11-18	no assertion criteria provided	X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Pathogenic	2020-10-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-08-29	criteria provided, single submitter	intellectual disability	de novo	Detail
Pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	Rett syndrome	de novo germline	Detail
Pathogenic	2024-01-15	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Mental Retardation, X-Linked, Syndromic 13	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) AND X-linked intellectual disability-psychosis-mac...	ClinVar	Detail
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) AND Intellectual disability	ClinVar	Detail
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) AND Severe neonatal-onset encephalopathy with micr...	ClinVar	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: rs267608571 dbSNP
Genome: hg38
Position: chrX:154,030,689-154,030,696
Variant Type: snv
Reference Allele: ACGGGGGC
Alternative Allele: -

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