chrX:154030677:G>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,128-153,296,128 View the variant detail on this assembly version.
hg38 chrX:154,030,677-154,030,677

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.1151C>T NP_004983.1:p.Pro384Leu
NM_001110792.1:c.1187C>T NP_001104262.1:p.Pro396Leu
NM_001316337.1:c.*523C>T
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
Uncertain significance 2012-09-27 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome germline de novo maternal Detail
Uncertain significance 2016-04-01 criteria provided, single submitter not specified germline Detail
Uncertain significance 2024-01-08 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Likely benign 2020-09-21 criteria provided, single submitter not provided germline Detail
Likely benign 2023-03-27 reviewed by expert panel Rett syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Mental Retardation, X-Linked, Syndromic 13 NA CLINVAR Detail
0.800 Rett syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND X-linked intellectual disability-psychosis-macroor... ClinVar Detail
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND not specified ClinVar Detail
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND Severe neonatal-onset encephalopathy with microcep... ClinVar Detail
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) AND Rett syndrome ClinVar Detail
NA DisGeNET Detail
NA 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
rs193922676 dbSNP
Genome
hg38
Position
chrX:154,030,677-154,030,677
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
6355
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)
80748
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)
1.2384207658394016E-5
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
0
Genome browser