chrX:154031020:G>C Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,471-153,296,471 View the variant detail on this assembly version.
hg38 chrX:154,031,020-154,031,020

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.808C>G NP_004983.1:p.Arg270Gly
NM_001110792.1:c.844C>G NP_001104262.1:p.Arg282Gly
NM_001316337.1:c.*180C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Mental Retardation, X-Linked, Syndromic 13 NA CLINVAR Detail
0.360 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS NA CLINVAR Detail
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 Among 60 patients 57 girls with a clinical picture of RTT had normal female kary... BeFree 11738872 Detail
0.800 Rett syndrome A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in ... BeFree 17914728 Detail
0.800 Rett syndrome p.R270X MECP2 mutation and mortality in Rett syndrome. BeFree 16077729 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In classic RTT, poor growth was associated with worse development, higher disease severity, and cert... DisGeNET Detail
Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one b... DisGeNET Detail
A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270... DisGeNET Detail
p.R270X MECP2 mutation and mortality in Rett syndrome. 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
rs61750240 dbSNP
Genome
hg38
Position
chrX:154,031,020-154,031,020
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
6628
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
86029
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1623987260109963E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
0
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