chrX:154030381:C>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,295,832-153,295,832 View the variant detail on this assembly version.
hg38 chrX:154,030,381-154,030,381

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.1447G>T NP_004983.1:p.Glu483Ter
NM_001110792.1:c.1483G>T NP_001104262.1:p.Glu495Ter
NM_001316337.1:c.*819G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
risk factor 2013-01-23 no assertion criteria provided Autism, susceptibility to, X-linked 3 germline Detail
Uncertain significance 2023-08-23 reviewed by expert panel Rett syndrome germline Detail
Pathogenic 2021-05-27 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) AND Autism, susceptibility to, X-linked 3 ClinVar Detail
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) AND not provided ClinVar 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
rs587777421 dbSNP
Genome
hg38
Position
chrX:154,030,381-154,030,381
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser