chrX:154030612:G>A Detail (hg38) (MECP2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chrX:153,296,063-153,296,063 View the variant detail on this assembly version.
hg38	chrX:154,030,612-154,030,612

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.1216C>T	NP_004983.1:p.Gln406Ter
	NM_001110792.1:c.1252C>T	NP_001104262.1:p.Gln418Ter
	NM_001316337.1:c.*588C>T
Ensemble	ENST00000303391.11:c.1216C>T	ENST00000303391.11:p.Gln406Ter
	ENST00000407218.5:c.*588C>T
	ENST00000415944.4:c.*588C>T
	ENST00000453960.7:c.1252C>T	ENST00000453960.7:p.Gln418Ter
	ENST00000628176.2:c.*588C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MECP2

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	2022-11-02	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-03-13	criteria provided, multiple submitters, no conflicts	Rett syndrome	de novo germline unknown	Detail
Pathogenic	2012-09-27	no assertion criteria provided	X-linked intellectual disability-psychosis-macroorchidism syndrome	de novo maternal	Detail
Pathogenic	2022-11-01	criteria provided, single submitter	Severe neonatal-onset encephalopathy with microcephaly	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

Descrption	Source	Links
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) AND not provided	ClinVar	Detail
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) AND X-linked intellectual disability-psychosis-macroor...	ClinVar	Detail
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) AND Severe neonatal-onset encephalopathy with microcep...	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: rs61753965 dbSNP
Genome: hg38
Position: chrX:154,030,612-154,030,612
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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