chr22:51065766:GA>AG Detail (hg19) (ARSA)

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

Genome

Assembly	Position
hg19	chr22:51,065,766-51,065,767
hg38	chr22:50,627,338-50,627,339 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.292_293delinsCT	NP_000478.3:p.Ser98Leu
	NM_001085426.2:c.292_293delinsCT	NP_001078895.2:p.Ser98Leu
	NM_001085427.2:c.292_293delinsCT	NP_001078896.2:p.Ser98Leu
	NM_001085425.2:c.292_293delinsCT	NP_001078894.2:p.Ser98Leu
	NM_001085428.2:c.34_35delinsCT	NP_001078897.1:p.Ser12Leu
Ensemble	ENST00000216124.10:c.292_293delinsCT	ENST00000216124.10:p.Ser98Leu
	ENST00000356098.9:c.292_293delinsCT	ENST00000356098.9:p.Ser98Leu
	ENST00000395619.3:c.292_293delinsCT	ENST00000395619.3:p.Ser98Leu
	ENST00000395621.7:c.292_293delinsCT	ENST00000395621.7:p.Ser98Leu
	ENST00000453344.6:c.34_35delinsCT	ENST00000453344.6:p.Ser12Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ARSA

Type	Database	ID	Link
Gene	MIM	607574	OMIM
	HGNC	713	HGNC
	Ensembl	ENSG00000100299	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
Pathogenic	2018-11-07	no assertion criteria provided	Metachromatic leukodystrophy, severe	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Metachromatic leukodystrophy is a lysosomal storage disorder caused by the defic...	UNIPROT	7825603	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) AND Metachromatic leukodystrophy, severe	ClinVar	Detail
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) AND not provided	ClinVar	Detail
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfata...	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: rs199476371 dbSNP
Genome: hg19
Position: chr22:51,065,766-51,065,767
Variant Type: snv
Reference Allele: GA
Alternative Allele: AG

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