chr22:50625260:ACAGCTGCGTC> Detail (hg38) (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	chr22:51,063,688-51,063,698
hg38	chr22:50,625,260-50,625,270

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1405_1415delGACGCAGCTGT	NP_000478.3:p.Ala470LeufsTer99
	NM_001085426.2:c.1405_1415delGACGCAGCTGT	NP_001078895.2:p.Ala470LeufsTer?
	NM_001085427.2:c.1405_1415delGACGCAGCTGT	NP_001078896.2:p.Ala470LeufsTer?
	NM_001085425.2:c.1405_1415delGACGCAGCTGT	NP_001078894.2:p.Ala470LeufsTer?
	NM_001085428.2:c.1147_1157delGACGCAGCTGT	NP_001078897.1:p.Ala384LeufsTer?
Ensemble	ENST00000216124.10:c.1405_1415delGACGCAGCTGT	ENST00000216124.10:p.Ala470LeufsTer99
	ENST00000356098.9:c.1405_1415delGACGCAGCTGT	ENST00000356098.9:p.Ala470LeufsTer?
	ENST00000395619.3:c.1405_1415delGACGCAGCTGT	ENST00000395619.3:p.Ala470LeufsTer?
	ENST00000395621.7:c.1405_1415delGACGCAGCTGT	ENST00000395621.7:p.Ala470LeufsTer?
	ENST00000453344.6:c.1147_1157delGACGCAGCTGT	ENST00000453344.6:p.Ala384LeufsTer?

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
not provided		no assertion provided	metachromatic leukodystrophy	germline	Detail
Pathogenic	2014-06-13	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	1991-06-01	no assertion criteria provided	Metachromatic leukodystrophy, late infantile form	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.1408_1418del (p.Ala470fs) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) AND Metachromatic leukodystrophy, late infantile form	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: rs80338823 dbSNP
Genome: hg38
Position: chr22:50,625,260-50,625,270
Variant Type: snv
Reference Allele: ACAGCTGCGTC
Alternative Allele: -

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