chrX:100653777:T>A Detail (hg19) (GLA, RPL36A-HNRNPH2)

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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:100,653,777-100,653,777
hg38	chrX:101,398,789-101,398,789 View the variant detail on this assembly version.

HGVS

GLA
RPL36A-HNRNPH2

Type	Transcript	Protein
RefSeq	NM_000169.2:c.797A>T	NP_000160.1:p.Asp266Val
Ensemble	ENST00000218516.4:c.797A>T	ENST00000218516.4:p.Asp266Val
	ENST00000649178.1:c.920A>T	ENST00000649178.1:p.Asp307Val
	ENST00000674634.2:c.797A>T	ENST00000674634.2:p.Asp266Val
	ENST00000675592.1:c.797A>T	ENST00000675592.1:p.Asp266Val
	ENST00000676156.1:c.761A>T	ENST00000676156.1:p.Asp254Val
	ENST00000710365.1:c.872A>T	ENST00000710365.1:p.Asp291Val

Type	Transcript	Protein
RefSeq	NM_001199973.1:c.300+3332T>A
	NM_001199974.1:c.177+6967T>A
Ensemble	ENST00000409170.3:c.300+3332T>A
	ENST00000409338.5:c.177+6967T>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

GLA
RPL36A-HNRNPH2

Type	Database	ID	Link
Gene	MIM	300644	OMIM
	HGNC	4296	HGNC
	Ensembl	ENSG00000102393	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	48349	HGNC
	Ensembl	ENSG00000257529	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
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-07-15	criteria provided, multiple submitters, no conflicts	Fabry disease	germline	Detail
Pathogenic	2018-05-23	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.665	Fabry disease	Nature and frequency of mutations in the alpha-galactosidase A gene that cause F...	UNIPROT	7504405	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000169.3(GLA):c.797A>T (p.Asp266Val) AND Fabry disease	ClinVar	Detail
NM_000169.3(GLA):c.797A>T (p.Asp266Val) AND not provided	ClinVar	Detail
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	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: rs28935487 dbSNP
Genome: hg19
Position: chrX:100,653,777-100,653,777
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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