chrX:154031065:G>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,516-153,296,516 View the variant detail on this assembly version.
hg38 chrX:154,031,065-154,031,065

HGVS

Type Transcript Protein
RefSeq NM_001110792.1:c.799C>T NP_001104262.1:p.Arg267Ter
NM_004992.3:c.763C>T NP_004983.1:p.Arg255Ter
NM_001316337.1:c.*135C>T
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-09 criteria provided, multiple submitters, no conflicts Rett syndrome de novo germline unknown Detail
Pathogenic 2023-03-27 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2013-12-05 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome de novo Detail
Pathogenic 2022-01-10 criteria provided, multiple submitters, no conflicts Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome germline unknown Detail
Pathogenic 2022-01-10 criteria provided, multiple submitters, no conflicts Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome germline unknown Detail
Pathogenic 2022-01-10 criteria provided, multiple submitters, no conflicts Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome germline unknown Detail
Pathogenic 2022-01-10 criteria provided, multiple submitters, no conflicts Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome germline unknown Detail
Pathogenic 2022-01-10 criteria provided, multiple submitters, no conflicts Rett syndrome,Autism, susceptibility to, X-linked 3,Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome germline unknown Detail
Pathogenic 2023-12-25 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter de novo Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2023-07-28 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2024-03-29 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type germline Detail
Pathogenic 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
0.800 Rett syndrome NA CLINVAR Detail
0.800 Rett syndrome In classic RTT, poor growth was associated with worse development, higher diseas... BeFree 23035069 Detail
0.014 epilepsy MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R1... BeFree 20231667 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND X-linked intellectual disability-psychosis-macroorc... ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Abnormality of the nervous system ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Neurodevelopmental delay ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND Syndromic X-linked intellectual disability Lubs typ... ClinVar Detail
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) AND MECP2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
In classic RTT, poor growth was associated with worse development, higher disease severity, and cert... DisGeNET Detail
MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less ... 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
rs61749721 dbSNP
Genome
hg38
Position
chrX:154,031,065-154,031,065
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser