chrX:153296099:C>A Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,099-153,296,099
hg38 chrX:154,030,648-154,030,648 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.1180G>T NP_004983.1:p.Glu394Ter
NM_001110792.1:c.1216G>T NP_001104262.1:p.Glu406Ter
NM_001316337.1:c.*552G>T
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 2000-10-01 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome germline Detail
Pathogenic 2014-02-11 criteria provided, single submitter 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.1216G>T (p.Glu406Ter) AND X-linked intellectual disability-psychosis-macroor... ClinVar Detail
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) 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
rs63094662 dbSNP
Genome
hg19
Position
chrX:153,296,099-153,296,099
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser