chrX:154030912:G>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,363-153,296,363 View the variant detail on this assembly version.
hg38 chrX:154,030,912-154,030,912

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.916C>T NP_004983.1:p.Arg306Cys
NM_001110792.1:c.952C>T NP_001104262.1:p.Arg318Cys
NM_001316337.1:c.*288C>T
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
Uncertain significance other unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-03-26 reviewed by expert panel Rett syndrome de novo germline unknown Detail
Pathogenic 2023-07-18 criteria provided, multiple submitters, no conflicts not provided unknown de novo germline Detail
Pathogenic 2006-02-20 no assertion criteria provided Angelman syndrome germline Detail
Pathogenic 2014-07-25 criteria provided, single submitter intellectual disability de novo Detail
Pathogenic 2024-01-11 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-11-01 criteria provided, single submitter Autism, susceptibility to, X-linked 3 de novo Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2019-01-23 criteria provided, single submitter de novo Detail
Pathogenic 2018-12-06 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3,Rett syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3,Rett syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3,Rett syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3,Rett syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3,Rett syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2024-01-12 criteria provided, single submitter MECP2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Mental Retardation, X-Linked, Syndromic 13 NA CLINVAR Detail
0.247 Angelman syndrome NA CLINVAR Detail
0.800 Rett syndrome NA CLINVAR Detail
0.014 epilepsy MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R1... BeFree 20231667 Detail
0.157 autistic disorder Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely... BeFree 17684768 Detail
<0.001 Congenital scoliosis Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had ... BeFree 20032810 Detail
0.005 Scoliosis, unspecified Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had ... BeFree 20032810 Detail
<0.001 Acquired scoliosis Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had ... BeFree 20032810 Detail
0.800 Rett syndrome Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at ... UNIPROT 10577905 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Angelman syndrome ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Intellectual disability ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Neurodevelopmental delay ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND See cases ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) AND MECP2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less ... DisGeNET Detail
Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial ... DisGeNET Detail
Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for sco... DisGeNET Detail
Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for sco... DisGeNET Detail
Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for sco... DisGeNET Detail
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 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
rs28935468 dbSNP
Genome
hg38
Position
chrX:154,030,912-154,030,912
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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