chrX:154031431:G>C 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:153,296,882-153,296,882 View the variant detail on this assembly version.
hg38	chrX:154,031,431-154,031,431

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.397C>G	NP_004983.1:p.Arg133Gly
	NM_001110792.1:c.433C>G	NP_001104262.1:p.Arg145Gly
	NM_001316337.1:c.397C>G	NP_001303266.1:p.Arg133Gly
Ensemble	ENST00000303391.11:c.397C>G	ENST00000303391.11:p.Arg133Gly
	ENST00000407218.5:c.433C>G	ENST00000407218.5:p.Arg145Gly
	ENST00000415944.4:c.397C>G	ENST00000415944.4:p.Arg133Gly
	ENST00000453960.7:c.433C>G	ENST00000453960.7:p.Arg145Gly
	ENST00000628176.2:c.397C>G	ENST00000628176.2:p.Arg133Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2023-11-09	criteria provided, single submitter	Rett syndrome	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
0.120	Rett syndrome, zappella variant	NA	CLINVAR		Detail
0.247	Angelman syndrome	NA	CLINVAR		Detail
0.800	Rett syndrome	NA	CLINVAR		Detail
0.800	Rett syndrome	Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, ...	BeFree	18499664	Detail
0.800	Rett syndrome	Classic Rett syndrome in a boy with R133C mutation of MECP2.	BeFree	16122633	Detail
0.800	Rett syndrome	Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-bind...	UNIPROT	10508514	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) AND Rett syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) locate...	DisGeNET	Detail
Classic Rett syndrome in a boy with R133C mutation of MECP2.	DisGeNET	Detail
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.	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: rs28934904 dbSNP
Genome: hg38
Position: chrX:154,031,431-154,031,431
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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