chr22:50626204:C>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	chr22:51,064,632-51,064,632 View the variant detail on this assembly version.
hg38	chr22:50,626,204-50,626,204

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.929G>T	NP_000478.3:p.Gly310Val
	NM_001085426.2:c.929G>T	NP_001078895.2:p.Gly310Val
	NM_001085427.2:c.929G>T	NP_001078896.2:p.Gly310Val
	NM_001085425.2:c.929G>T	NP_001078894.2:p.Gly310Val
	NM_001085428.2:c.671G>T	NP_001078897.1:p.Gly224Val
Ensemble	ENST00000216124.10:c.929G>T	ENST00000216124.10:p.Gly310Val
	ENST00000356098.9:c.929G>T	ENST00000356098.9:p.Gly310Val
	ENST00000395619.3:c.929G>T	ENST00000395619.3:p.Gly310Val
	ENST00000395621.7:c.929G>T	ENST00000395621.7:p.Gly310Val
	ENST00000453344.6:c.671G>T	ENST00000453344.6:p.Gly224Val

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	not provided	not provided	Detail
Pathogenic	2019-10-07	criteria provided, single submitter	metachromatic leukodystrophy	maternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Identification of 12 novel mutations and two new polymorphisms in the arylsulfat...	UNIPROT	10477432	Detail
0.514	Leukodystrophy, Metachromatic	Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient wi...	UNIPROT	8891236	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) AND Metachromatic leukodystrophy	ClinVar	Detail
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotyp...	DisGeNET	Detail
Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantil...	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: rs199476356 dbSNP
Genome: hg38
Position: chr22:50,626,204-50,626,204
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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