chr22:51064671:G>T 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	chr22:51,064,671-51,064,671
hg38	chr22:50,626,243-50,626,243 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.890C>A	NP_000478.3:p.Ser297Tyr
	NM_001085426.2:c.890C>A	NP_001078895.2:p.Ser297Tyr
	NM_001085427.2:c.890C>A	NP_001078896.2:p.Ser297Tyr
	NM_001085425.2:c.890C>A	NP_001078894.2:p.Ser297Tyr
	NM_001085428.2:c.632C>A	NP_001078897.1:p.Ser211Tyr
Ensemble	ENST00000216124.10:c.890C>A	ENST00000216124.10:p.Ser297Tyr
	ENST00000356098.9:c.890C>A	ENST00000356098.9:p.Ser297Tyr
	ENST00000395619.3:c.890C>A	ENST00000395619.3:p.Ser297Tyr
	ENST00000395621.7:c.890C>A	ENST00000395621.7:p.Ser297Tyr
	ENST00000453344.6:c.632C>A	ENST00000453344.6:p.Ser211Tyr

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	1993-12-01	no assertion criteria provided	Metachromatic leukodystrophy, severe	germline	Detail
Pathogenic		criteria provided, single submitter	metachromatic leukodystrophy	germline inherited	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Novel predicted disease-causing mutations have been defined in three patients wi...	UNIPROT	7906588	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) AND Metachromatic leukodystrophy, severe	ClinVar	Detail
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) AND Metachromatic leukodystrophy	ClinVar	Detail
Novel predicted disease-causing mutations have been defined in three patients with metachromatic leu...	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: rs74315474 dbSNP
Genome: hg19
Position: chr22:51,064,671-51,064,671
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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