chrX:153296116:GG>TA Detail (hg19) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,116-153,296,117
hg38 chrX:154,030,665-154,030,666 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004992.3:c.1162_1163delinsTA NP_004983.1:p.Pro388Ter
NM_001110792.1:c.1198_1199delinsTA NP_001104262.1:p.Pro400Ter
NM_001316337.1:c.*535_*534delinsTA
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 2007-11-01 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome unknown Detail
Pathogenic 2018-02-08 criteria provided, single submitter not provided germline Detail
Pathogenic 2018-04-17 criteria provided, single submitter intellectual disability de novo Detail
Pathogenic 2023-11-27 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2018-07-16 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-03-26 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
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND X-linked intellectual disability-psychos... ClinVar Detail
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND Intellectual disability ClinVar Detail
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND Severe neonatal-onset encephalopathy wit... ClinVar Detail
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) AND Rett syndrome 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
rs267608597 dbSNP
Genome
hg19
Position
chrX:153,296,116-153,296,117
Variant Type
snv
Reference Allele
GG
Alternative Allele
TA
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