chrX:153296777:G>T Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,777-153,296,777
hg38 chrX:154,031,326-154,031,326 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.502C>A NP_004983.1:p.Arg168=
NM_001110792.1:c.538C>A NP_001104262.1:p.Arg180=
NM_001316337.1:c.433-40C>A
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 2012-05-18 no assertion criteria provided Rett syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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 Correlation between clinical severity in patients with Rett syndrome with a p.R1... BeFree 16905679 Detail
0.800 Rett syndrome In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6... BeFree 19349604 Detail
0.001 Down syndrome Laboratory confirmation of the dual diagnosis, which includes a R168X mutation i... BeFree 15228575 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) AND Rett syndrome ClinVar Detail
NA DisGeNET Detail
In classic RTT, poor growth was associated with worse development, higher disease severity, and cert... DisGeNET Detail
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2... DisGeNET Detail
In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in s... DisGeNET Detail
Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in ... 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
rs61748421 dbSNP
Genome
hg19
Position
chrX:153,296,777-153,296,777
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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