chrX:154030864: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:153,296,315-153,296,315 View the variant detail on this assembly version.
hg38	chrX:154,030,864-154,030,864

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.964C>T	NP_004983.1:p.Pro322Ser
	NM_001110792.1:c.1000C>T	NP_001104262.1:p.Pro334Ser
	NM_001316337.1:c.*336C>T
Ensemble	ENST00000303391.11:c.964C>T	ENST00000303391.11:p.Pro322Ser
	ENST00000407218.5:c.*336C>T
	ENST00000415944.4:c.*336C>T
	ENST00000453960.7:c.1000C>T	ENST00000453960.7:p.Pro334Ser
	ENST00000628176.2:c.*336C>T

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000073 (TMGS000155)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-09-12	no assertion criteria provided	X-linked intellectual disability-psychosis-macroorchidism syndrome	germline	Detail
Likely pathogenic	2023-08-14	criteria provided, single submitter	Rett syndrome	de novo germline unknown	Detail
Pathogenic	2018-01-01	criteria provided, single submitter	not provided	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.1000C>T (p.Pro334Ser) AND X-linked intellectual disability-psychosis-macroor...	ClinVar	Detail
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) AND Rett syndrome	ClinVar	Detail
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) AND not provided	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: rs61751449 dbSNP
Genome: hg38
Position: chrX:154,030,864-154,030,864
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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