chrX:43590572:G>A Detail (hg19) (MAOA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chrX:43,590,572-43,590,572
hg38	chrX:43,731,325-43,731,325 View the variant detail on this assembly version.

HGVS

MAOA

Type	Transcript	Protein
RefSeq	NM_000240.3:c.730G>A	NP_000231.1:p.Val244Ile
	NM_001270458.1:c.331G>A	NP_001257387.1:p.Val111Ile
Ensemble	ENST00000338702.4:c.730G>A	ENST00000338702.4:p.Val244Ile
	ENST00000542639.6:c.331G>A	ENST00000542639.6:p.Val111Ile
	ENST00000686683.1:c.40G>A	ENST00000686683.1:p.Val14Ile
	ENST00000688006.1:c.331G>A	ENST00000688006.1:p.Val111Ile
	ENST00000689087.1:c.331G>A	ENST00000689087.1:p.Val111Ile
	ENST00000693128.1:c.625G>A	ENST00000693128.1:p.Val209Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

MAOA

Type	Database	ID	Link
Gene	MIM	309850	OMIM
	HGNC	6833	HGNC
	Ensembl	ENSG00000189221	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
Likely pathogenic	2017-08-01	criteria provided, single submitter	Brunner Syndrome	maternal	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000240.4(MAOA):c.730G>A (p.Val244Ile) AND Brunner syndrome	ClinVar	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: rs1135401773 dbSNP
Genome: hg19
Position: chrX:43,590,572-43,590,572
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser