chr22:50627048:G>A 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	chr22:51,065,476-51,065,476 View the variant detail on this assembly version.
hg38	chr22:50,627,048-50,627,048

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.470C>T	NP_000478.3:p.Pro157Leu
	NM_001085426.2:c.470C>T	NP_001078895.2:p.Pro157Leu
	NM_001085427.2:c.470C>T	NP_001078896.2:p.Pro157Leu
	NM_001085425.2:c.470C>T	NP_001078894.2:p.Pro157Leu
	NM_001085428.2:c.212C>T	NP_001078897.1:p.Pro71Leu
Ensemble	ENST00000216124.10:c.470C>T	ENST00000216124.10:p.Pro157Leu
	ENST00000356098.9:c.470C>T	ENST00000356098.9:p.Pro157Leu
	ENST00000395619.3:c.470C>T	ENST00000395619.3:p.Pro157Leu
	ENST00000395621.7:c.470C>T	ENST00000395621.7:p.Pro157Leu
	ENST00000453344.6:c.212C>T	ENST00000453344.6:p.Pro71Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Likely pathogenic	2021-12-28	criteria provided, single submitter	not provided	germline not provided	Detail
Uncertain significance	2021-08-12	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients w...	UNIPROT	14517960	Detail
0.514	Leukodystrophy, Metachromatic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) AND Metachromatic leukodystrophy	ClinVar	Detail
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic le...	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: rs74315464 dbSNP
Genome: hg38
Position: chr22:50,627,048-50,627,048
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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