chr22:51064480:C>A 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	chr22:51,064,480-51,064,480
hg38	chr22:50,626,052-50,626,052 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.991G>T	NP_000478.3:p.Glu331Ter
	NM_001085426.2:c.991G>T	NP_001078895.2:p.Glu331Ter
	NM_001085427.2:c.991G>T	NP_001078896.2:p.Glu331Ter
	NM_001085425.2:c.991G>T	NP_001078894.2:p.Glu331Ter
	NM_001085428.2:c.733G>T	NP_001078897.1:p.Glu245Ter
Ensemble	ENST00000216124.10:c.991G>T	ENST00000216124.10:p.Glu331Ter
	ENST00000356098.9:c.991G>T	ENST00000356098.9:p.Glu331Ter
	ENST00000395619.3:c.991G>T	ENST00000395619.3:p.Glu331Ter
	ENST00000395621.7:c.991G>T	ENST00000395621.7:p.Glu331Ter
	ENST00000453344.6:c.733G>T	ENST00000453344.6:p.Glu245Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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 Likely pathogenic	2022-06-20	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline unknown	Detail
Pathogenic	2012-11-26	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) AND not provided	ClinVar	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: rs398123419 dbSNP
Genome: hg19
Position: chr22:51,064,480-51,064,480
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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