chrX:153297719:G>A Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,297,719-153,297,719
hg38 chrX:154,032,268-154,032,268 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001110792.1:c.352C>T NP_001104262.1:p.Arg118Trp
NM_004992.3:c.316C>T NP_004983.1:p.Arg106Trp
NM_001316337.1:c.316C>T NP_001303266.1:p.Arg106Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM4108018 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Rett syndrome germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts Rett syndrome unknown de novo germline Detail
Pathogenic 2022-01-07 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-15 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly de novo germline Detail
Pathogenic 2019-03-25 criteria provided, single submitter not specified germline Detail
Pathogenic 2016-01-01 criteria provided, single submitter Autism, susceptibility to, X-linked 3 unknown Detail
Pathogenic 2022-05-04 criteria provided, single submitter X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2022-03-29 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Rett syndrome,Autism, susceptibility to, X-linked 3,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 Rett syndrome,Autism, susceptibility to, X-linked 3,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 Rett syndrome,Autism, susceptibility to, X-linked 3,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 Rett syndrome,Autism, susceptibility to, X-linked 3,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 Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome,syndromic X-linked intellectual disability Lubs type,Severe neonatal-onset encephalopathy with microcephaly germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 Rett syndrome NA CLINVAR Detail
0.800 Rett syndrome Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, ... BeFree 18499664 Detail
0.800 Rett syndrome Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-bind... UNIPROT 10508514 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.352C>T (p.Arg118Trp) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND not specified ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND X-linked intellectual disability-psychosis-macroorc... ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) locate... DisGeNET Detail
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 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
rs28934907 dbSNP
Genome
hg19
Position
chrX:153,297,719-153,297,719
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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