chrX:154030668:GG>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,119-153,296,120 View the variant detail on this assembly version.
hg38 chrX:154,030,668-154,030,669

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.1159_1160delinsT NP_004983.1:p.Pro387SerfsTer22
NM_001110792.1:c.1195_1196delinsT NP_001104262.1:p.Pro399SerfsTer22
NM_001316337.1:c.*532_*531delinsT
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 2024-01-10 criteria provided, single submitter Rett syndrome germline maternal Detail
Pathogenic 2011-11-01 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome maternal unknown 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.1195_1196delinsT (p.Pro399fs) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) AND X-linked intellectual disability-psychosis... 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
rs267608590 dbSNP
Genome
hg38
Position
chrX:154,030,668-154,030,669
Variant Type
snv
Reference Allele
GG
Alternative Allele
A
Genome browser