chr22:50625396:G>T 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	chr22:51,063,824-51,063,824 View the variant detail on this assembly version.
hg38	chr22:50,625,396-50,625,396

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1279C>A	NP_000478.3:p.Pro427Thr
	NM_001085426.2:c.1279C>A	NP_001078895.2:p.Pro427Thr
	NM_001085427.2:c.1279C>A	NP_001078896.2:p.Pro427Thr
	NM_001085425.2:c.1279C>A	NP_001078894.2:p.Pro427Thr
	NM_001085428.2:c.1021C>A	NP_001078897.1:p.Pro341Thr
Ensemble	ENST00000216124.10:c.1279C>A	ENST00000216124.10:p.Pro427Thr
	ENST00000356098.9:c.1279C>A	ENST00000356098.9:p.Pro427Thr
	ENST00000395619.3:c.1279C>A	ENST00000395619.3:p.Pro427Thr
	ENST00000395621.7:c.1279C>A	ENST00000395621.7:p.Pro427Thr
	ENST00000453344.6:c.1021C>A	ENST00000453344.6:p.Pro341Thr

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	2003-06-20	no assertion criteria provided	Metachromatic leukodystrophy, juvenile type	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Metachromatic leukodystrophy, juvenile type	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	Sedimentation analysis was used to study the oligomerization capacity of C300F a...	UNIPROT	12788103	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) AND Metachromatic leukodystrophy, juvenile type	ClinVar	Detail
NA	DisGeNET	Detail
Sedimentation analysis was used to study the oligomerization capacity of C300F and P425T-substituted...	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: rs74315485 dbSNP
Genome: hg38
Position: chr22:50,625,396-50,625,396
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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