chr22:50627221:A>G 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	chr22:51,065,649-51,065,649 View the variant detail on this assembly version.
hg38	chr22:50,627,221-50,627,221

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.410T>C	NP_000478.3:p.Leu137Pro
	NM_001085426.2:c.410T>C	NP_001078895.2:p.Leu137Pro
	NM_001085427.2:c.410T>C	NP_001078896.2:p.Leu137Pro
	NM_001085425.2:c.410T>C	NP_001078894.2:p.Leu137Pro
	NM_001085428.2:c.152T>C	NP_001078897.1:p.Leu51Pro
Ensemble	ENST00000216124.10:c.410T>C	ENST00000216124.10:p.Leu137Pro
	ENST00000356098.9:c.410T>C	ENST00000356098.9:p.Leu137Pro
	ENST00000395619.3:c.410T>C	ENST00000395619.3:p.Leu137Pro
	ENST00000395621.7:c.410T>C	ENST00000395621.7:p.Leu137Pro
	ENST00000453344.6:c.152T>C	ENST00000453344.6:p.Leu51Pro

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	1998-04-01	no assertion criteria provided	Metachromatic leukodystrophy, adult type	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease cau...	UNIPROT	9600244	Detail
0.241	Metachromatic Leukodystrophy, Adult-Type (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro) AND Metachromatic leukodystrophy, adult type	ClinVar	Detail
Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease caused by deficiency of...	DisGeNET	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: rs121434215 dbSNP
Genome: hg38
Position: chr22:50,627,221-50,627,221
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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