chrX:154031020:G>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,471-153,296,471 View the variant detail on this assembly version.
hg38 chrX:154,031,020-154,031,020

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.808C>T NP_004983.1:p.Arg270Ter
NM_001110792.1:c.844C>T NP_001104262.1:p.Arg282Ter
NM_001316337.1:c.*180C>T
Summary

MGeND

Clinical significance Likely pathogenic
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 COSM4108017 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-30 criteria provided, multiple submitters, no conflicts Rett syndrome de novo germline unknown Detail
Pathogenic 2022-10-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2014-02-12 criteria provided, single submitter Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome germline Detail
Pathogenic 2023-12-28 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome unknown Detail
Pathogenic 2017-03-24 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2020-01-30 criteria provided, single submitter Autism, susceptibility to, X-linked 3 unknown Detail
Pathogenic 2021-02-19 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type unknown Detail
Pathogenic 2022-02-24 criteria provided, single submitter MECP2-related disorder unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Mental Retardation, X-Linked, Syndromic 13 NA CLINVAR Detail
0.360 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 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
0.800 Rett syndrome Among 60 patients 57 girls with a clinical picture of RTT had normal female kary... BeFree 11738872 Detail
0.800 Rett syndrome A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in ... BeFree 17914728 Detail
0.800 Rett syndrome p.R270X MECP2 mutation and mortality in Rett syndrome. BeFree 16077729 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Encephalopathy, neonatal severeMental retardation, ... ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND Syndromic X-linked intellectual disability Lubs typ... ClinVar Detail
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) AND MECP2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In classic RTT, poor growth was associated with worse development, higher disease severity, and cert... DisGeNET Detail
Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one b... DisGeNET Detail
A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270... DisGeNET Detail
p.R270X MECP2 mutation and mortality in Rett syndrome. 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
rs61750240 dbSNP
Genome
hg38
Position
chrX:154,031,020-154,031,020
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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