chrX:154031360:G>A Detail (hg38) (MECP2)

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

Information

Genome

Assembly	Position
hg19	chrX:153,296,811-153,296,811 View the variant detail on this assembly version.
hg38	chrX:154,031,360-154,031,360

HGVS

MECP2

Type	Transcript	Protein
RefSeq	NM_004992.3:c.468C>T	NP_004983.1:p.Asp156=
	NM_001110792.1:c.504C>T	NP_001104262.1:p.Asp168=
	NM_001316337.1:c.432+36C>T
Ensemble	ENST00000303391.11:c.468C>T	ENST00000303391.11:p.Asp156=
	ENST00000407218.5:c.468+36C>T
	ENST00000415944.4:c.432+36C>T
	ENST00000453960.7:c.504C>T	ENST00000453960.7:p.Asp168=
	ENST00000628176.2:c.432+36C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	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.504C>T (p.Asp168=) 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: rs61748408 dbSNP
Genome: hg38
Position: chrX:154,031,360-154,031,360
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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