chrX:154031326: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:153,296,777-153,296,777 View the variant detail on this assembly version.
hg38	chrX:154,031,326-154,031,326

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_001110792.1:c.538C>T	NP_001104262.1:p.Arg180Ter
	NM_004992.3:c.502C>T	NP_004983.1:p.Arg168Ter
	NM_001316337.1:c.433-40C>T
Ensemble	ENST00000453960.7:c.538C>T	ENST00000453960.7:p.Arg180Ter
	ENST00000303391.11:c.502C>T	ENST00000303391.11:p.Arg168Ter
	ENST00000407218.5:c.469-40C>T
	ENST00000415944.4:c.433-40C>T
	ENST00000628176.2:c.433-40C>T

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		other	unknown	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-08	criteria provided, multiple submitters, no conflicts	Rett syndrome	de novo germline inherited maternal unknown	Detail
Pathogenic	2022-09-07	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2014-07-25	criteria provided, single submitter	intellectual disability	de novo	Detail
Pathogenic	2024-01-03	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	germline	Detail
Pathogenic	2017-01-01	criteria provided, single submitter	Global developmental delay	unknown	Detail
Pathogenic	2022-07-08	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2024-03-14	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type	germline	Detail
Pathogenic	2023-12-08	criteria provided, single submitter	MECP2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.800	Rett syndrome	NA	CLINVAR		Detail
0.800	Rett syndrome	In classic RTT, poor growth was associated with worse development, higher diseas...	BeFree	23035069	Detail
0.800	Rett syndrome	Correlation between clinical severity in patients with Rett syndrome with a p.R1...	BeFree	16905679	Detail
0.800	Rett syndrome	In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6...	BeFree	19349604	Detail
0.001	Down syndrome	Laboratory confirmation of the dual diagnosis, which includes a R168X mutation i...	BeFree	15228575	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND Intellectual disability	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND Severe neonatal-onset encephalopathy with microceph...	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND Inborn genetic diseases	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND Syndromic X-linked intellectual disability Lubs typ...	ClinVar	Detail
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) AND MECP2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
In classic RTT, poor growth was associated with worse development, higher disease severity, and cert...	DisGeNET	Detail
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2...	DisGeNET	Detail
In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in s...	DisGeNET	Detail
Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in ...	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: rs61748421 dbSNP
Genome: hg38
Position: chrX:154,031,326-154,031,326
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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