chrX:154030416:CT> 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:153,295,867-153,295,868
hg38	chrX:154,030,416-154,030,417

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.1411_1412delAG	NP_004983.1:p.Glu472GlyfsTer14
	NM_001110792.1:c.1447_1448delAG	NP_001104262.1:p.Glu484GlyfsTer14
	NM_001316337.1:c.784_783delAG
Ensemble	ENST00000303391.11:c.1411_1412delAG	ENST00000303391.11:p.Glu472GlyfsTer14
	ENST00000415944.4:c.784_783delAG
	ENST00000453960.7:c.1447_1448delAG	ENST00000453960.7:p.Glu484GlyfsTer14
	ENST00000628176.2:c.784_783delAG

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Mental Retardation, X-Linked, Syndromic 13	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs267608634 dbSNP
Genome: hg38
Position: chrX:154,030,416-154,030,417
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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