chrX:153296825:G>C Detail (hg19) (MECP2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:153,296,825-153,296,825
hg38	chrX:154,031,374-154,031,374 View the variant detail on this assembly version.

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.454C>G	NP_004983.1:p.Pro152Ala
	NM_001110792.1:c.490C>G	NP_001104262.1:p.Pro164Ala
	NM_001316337.1:c.432+22C>G
Ensemble	ENST00000303391.11:c.454C>G	ENST00000303391.11:p.Pro152Ala
	ENST00000407218.5:c.468+22C>G
	ENST00000415944.4:c.432+22C>G
	ENST00000453960.7:c.490C>G	ENST00000453960.7:p.Pro164Ala
	ENST00000628176.2:c.432+22C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2009-01-01	no assertion criteria provided	Rett syndrome, zappella variant	germline	Detail
Pathogenic	2020-10-14	criteria provided, single submitter	X-linked intellectual disability-psychosis-macroorchidism syndrome	maternal paternal unknown	Detail
Conflicting interpretations of pathogenicity	2020-11-24	criteria provided, conflicting interpretations	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome	unknown	Detail
Likely pathogenic	2021-03-26	reviewed by expert panel	Rett syndrome	germline unknown	Detail
Conflicting interpretations of pathogenicity	2023-11-16	criteria provided, conflicting interpretations	Severe neonatal-onset encephalopathy with microcephaly	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

Annotation

Annotations

Descrption	Source	Links
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND Rett syndrome, zappella variant	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND X-linked intellectual disability-psychosis-macroorc...	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND multiple conditions	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) AND Severe neonatal-onset encephalopathy with microceph...	ClinVar	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: rs179363900 dbSNP
Genome: hg19
Position: chrX:153,296,825-153,296,825
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser