chrX:153296860:G>A Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,860-153,296,860
hg38 chrX:154,031,409-154,031,409 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.419C>T NP_004983.1:p.Ala140Val
NM_001110792.1:c.455C>T NP_001104262.1:p.Ala152Val
NM_001316337.1:c.419C>T NP_001303266.1:p.Ala140Val
Summary

MGeND

Clinical significance
Variant entry
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 COSM1466731 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-08 criteria provided, multiple submitters, no conflicts X-linked intellectual disability-psychosis-macroorchidism syndrome germline maternal Detail
Pathogenic criteria provided, multiple submitters, no conflicts Rett syndrome germline unknown Detail
Pathogenic Likely pathogenic 2021-10-01 criteria provided, multiple submitters, no conflicts not provided germline maternal Detail
Likely pathogenic 2015-09-10 criteria provided, single submitter microcephaly,intellectual disability unknown Detail
Likely pathogenic 2015-09-10 criteria provided, single submitter microcephaly,intellectual disability unknown Detail
Pathogenic 2023-10-13 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Likely pathogenic no assertion criteria provided unknown Detail
Likely pathogenic 2016-01-01 criteria provided, single submitter Autism, susceptibility to, X-linked 3 unknown Detail
Pathogenic 2018-07-03 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2018-07-03 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2018-07-03 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2018-07-03 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2018-07-03 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,Rett syndrome,Autism, susceptibility to, X-linked 3,X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Likely pathogenic 2020-04-20 criteria provided, single submitter intellectual disability maternal Detail
Pathogenic 2020-04-03 criteria provided, single submitter Neurodevelopmental disorder germline Detail
Pathogenic 2022-09-29 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-05-23 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type 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
0.480 Mental Retardation, X-Linked, Syndromic 13 MECP2 mutation in male patients with non-specific X-linked mental retardation. UNIPROT 11007980 Detail
<0.001 Mild Mental Retardation We report here on a novel mutation (A140V) in the MECP2 gene detected in one fem... BeFree 11007980 Detail
0.014 nervous system disorder The neurologic disorder associated with A140V MECP2 mutation is not necessarily ... BeFree 11805248 Detail
0.028 Mental Retardation Identification of a family with nonspecific mental retardation (MRX79) with the ... BeFree 12325019 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND X-linked intellectual disability-psychosis-macroorc... ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Atypical behavior ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Intellectual disability ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Neurodevelopmental disorder ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) AND Syndromic X-linked intellectual disability Lubs typ... ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
MECP2 mutation in male patients with non-specific X-linked mental retardation. DisGeNET Detail
We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental... DisGeNET Detail
The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but t... DisGeNET Detail
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in th... 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
rs28934908 dbSNP
Genome
hg19
Position
chrX:153,296,860-153,296,860
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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