chrX:154030948:G>C Detail (hg38) (MECP2)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.880C>G NP_004983.1:p.Arg294Gly
NM_001110792.1:c.916C>G NP_001104262.1:p.Arg306Gly
NM_001316337.1:c.*252C>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 Likely benign
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 benign 2023-05-20 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly 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>G (p.Arg306Gly) AND Severe neonatal-onset encephalopathy with microceph... 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
-
Genome
hg38
Position
chrX:154,030,948-154,030,948
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
6632
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)
87451
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)
1.1434975014579593E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
0
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