chrX:153296399:G>A Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,399-153,296,399
hg38 chrX:154,030,948-154,030,948 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.880C>T NP_004983.1:p.Arg294Ter
NM_001110792.1:c.916C>T NP_001104262.1:p.Arg306Ter
NM_001316337.1:c.*252C>T
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
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; risk factor 2013-12-05 no assertion criteria provided Autism, susceptibility to, X-linked 3 germline unknown Detail
Pathogenic 2022-08-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-31 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2022-03-21 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome germline unknown Detail
Pathogenic 2022-03-21 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome germline unknown Detail
Pathogenic 2022-03-21 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome germline unknown Detail
Pathogenic 2022-03-21 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome germline unknown Detail
Pathogenic 2022-03-21 criteria provided, multiple submitters, no conflicts Severe neonatal-onset encephalopathy with microcephaly,syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,Autism, susceptibility to, X-linked 3,Rett syndrome germline unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-04-26 criteria provided, single submitter de novo Detail
Pathogenic 2024-03-14 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
0.240 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) NA CLINVAR Detail
0.800 Rett syndrome NA CLINVAR 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
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND multiple conditions ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND See cases ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND Syndromic X-linked intellectual disability Lubs typ... ClinVar Detail
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) AND MECP2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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

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
rs61751362 dbSNP
Genome
hg19
Position
chrX:153,296,399-153,296,399
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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