chrX:153296860:G>T Detail (hg19) (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:153,296,860-153,296,860
hg38	chrX:154,031,409-154,031,409 View the variant detail on this assembly version.

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.419C>A	NP_004983.1:p.Ala140Glu
	NM_001110792.1:c.455C>A	NP_001104262.1:p.Ala152Glu
	NM_001316337.1:c.419C>A	NP_001303266.1:p.Ala140Glu
Ensemble	ENST00000303391.11:c.419C>A	ENST00000303391.11:p.Ala140Glu
	ENST00000407218.5:c.455C>A	ENST00000407218.5:p.Ala152Glu
	ENST00000415944.4:c.419C>A	ENST00000415944.4:p.Ala140Glu
	ENST00000453960.7:c.455C>A	ENST00000453960.7:p.Ala152Glu
	ENST00000628176.2:c.419C>A	ENST00000628176.2:p.Ala140Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Mental Retardation, X-Linked, Syndromic 13	NA	CLINVAR		Detail
0.800	Rett syndrome	NA	CLINVAR		Detail
0.480	Mental Retardation, X-Linked, Syndromic 13	MECP2 mutation in male patients with non-specific X-linked mental retardation.	UNIPROT	11007980	Detail
<0.001	Mild Mental Retardation	We report here on a novel mutation (A140V) in the MECP2 gene detected in one fem...	BeFree	11007980	Detail
0.014	nervous system disorder	The neurologic disorder associated with A140V MECP2 mutation is not necessarily ...	BeFree	11805248	Detail
0.028	Mental Retardation	Identification of a family with nonspecific mental retardation (MRX79) with the ...	BeFree	12325019	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
MECP2 mutation in male patients with non-specific X-linked mental retardation.	DisGeNET	Detail
We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental...	DisGeNET	Detail
The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but t...	DisGeNET	Detail
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in th...	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: -
Genome: hg19
Position: chrX:153,296,860-153,296,860
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6636
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 87704
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1401988506795585E-5
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 0

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