chrX:154031026:G>A Detail (hg38) (MECP2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chrX:153,296,477-153,296,477 View the variant detail on this assembly version.
hg38	chrX:154,031,026-154,031,026

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.802C>T	NP_004983.1:p.Arg268Trp
	NM_001110792.1:c.838C>T	NP_001104262.1:p.Arg280Trp
	NM_001316337.1:c.*174C>T
Ensemble	ENST00000303391.11:c.802C>T	ENST00000303391.11:p.Arg268Trp
	ENST00000407218.5:c.*174C>T
	ENST00000415944.4:c.*174C>T
	ENST00000453960.7:c.838C>T	ENST00000453960.7:p.Arg280Trp
	ENST00000628176.2:c.*174C>T

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	Uncertain significance
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	tgv67029687	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-04-25	criteria provided, single submitter	not provided	germline not provided	Detail
Uncertain significance	2024-01-26	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	germline	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,Autism, susceptibility to, X-linked 3	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,Autism, susceptibility to, X-linked 3	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,Autism, susceptibility to, X-linked 3	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,Autism, susceptibility to, X-linked 3	unknown	Detail
Uncertain significance	2018-10-31	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Rett syndrome,Autism, susceptibility to, X-linked 3	unknown	Detail
Likely benign		criteria provided, single submitter	X-linked intellectual disability-psychosis-macroorchidism syndrome	germline	Detail
Uncertain significance	2021-10-28	reviewed by expert panel	Rett syndrome	germline	Detail
Uncertain significance	2024-01-30	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND Severe neonatal-onset encephalopathy with microceph...	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND X-linked intellectual disability-psychosis-macroorc...	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) AND Inborn genetic diseases	ClinVar	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: rs61750239 dbSNP
Genome: hg38
Position: chrX:154,031,026-154,031,026
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6628
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): 86122
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): 1.1611434941130025E-5
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 0

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