chrX:154030903:G>A 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:153,296,354-153,296,354 View the variant detail on this assembly version.
hg38	chrX:154,030,903-154,030,903

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.925C>T	NP_004983.1:p.Arg309Trp
	NM_001110792.1:c.961C>T	NP_001104262.1:p.Arg321Trp
	NM_001316337.1:c.*297C>T
Ensemble	ENST00000303391.11:c.925C>T	ENST00000303391.11:p.Arg309Trp
	ENST00000407218.5:c.*297C>T
	ENST00000415944.4:c.*297C>T
	ENST00000453960.7:c.961C>T	ENST00000453960.7:p.Arg321Trp
	ENST00000628176.2:c.*297C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM6710545	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2021-10-25	criteria provided, multiple submitters, no conflicts	not provided	germline maternal	Detail
Pathogenic Likely pathogenic	2017-09-01	criteria provided, multiple submitters, no conflicts	X-linked intellectual disability-psychosis-macroorchidism syndrome	de novo germline inherited unknown	Detail
Uncertain significance	2013-12-05	no assertion criteria provided	Autism, susceptibility to, X-linked 3	de novo	Detail
Pathogenic	2022-07-28	reviewed by expert panel	Rett syndrome	de novo germline unknown	Detail
Likely pathogenic	2015-12-14	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2019-04-05	criteria provided, single submitter	intellectual disability	de novo	Detail
Pathogenic	2023-12-30	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	germline	Detail
Pathogenic	2024-03-14	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type	germline	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.961C>T (p.Arg321Trp) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND X-linked intellectual disability-psychosis-macroorc...	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Autism, susceptibility to, X-linked 3	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Inborn genetic diseases	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Intellectual disability	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Severe neonatal-onset encephalopathy with microceph...	ClinVar	Detail
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) AND Syndromic X-linked intellectual disability Lubs typ...	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: rs61751444 dbSNP
Genome: hg38
Position: chrX:154,030,903-154,030,903
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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