chrX:154032268:G>C Detail (hg38) (MECP2)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.316C>G NP_004983.1:p.Arg106Gly
NM_001110792.1:c.352C>G NP_001104262.1:p.Arg118Gly
NM_001316337.1:c.316C>G NP_001303266.1:p.Arg106Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2024-03-13 criteria provided, single submitter Rett syndrome germline maternal unknown Detail
Likely pathogenic 2023-04-25 criteria provided, single submitter MECP2-related disorder 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>G (p.Arg118Gly) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) AND MECP2-related disorder 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
hg38
Position
chrX:154,032,268-154,032,268
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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