chr22:50625383:T>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	chr22:51,063,811-51,063,811 View the variant detail on this assembly version.
hg38	chr22:50,625,383-50,625,383

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1292A>C	NP_000478.3:p.Tyr431Ser
	NM_001085426.2:c.1292A>C	NP_001078895.2:p.Tyr431Ser
	NM_001085427.2:c.1292A>C	NP_001078896.2:p.Tyr431Ser
	NM_001085425.2:c.1292A>C	NP_001078894.2:p.Tyr431Ser
	NM_001085428.2:c.1034A>C	NP_001078897.1:p.Tyr345Ser
Ensemble	ENST00000216124.10:c.1292A>C	ENST00000216124.10:p.Tyr431Ser
	ENST00000356098.9:c.1292A>C	ENST00000356098.9:p.Tyr431Ser
	ENST00000395619.3:c.1292A>C	ENST00000395619.3:p.Tyr431Ser
	ENST00000395621.7:c.1292A>C	ENST00000395621.7:p.Tyr431Ser
	ENST00000453344.6:c.1034A>C	ENST00000453344.6:p.Tyr345Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	2023-12-14	criteria provided, single submitter	metachromatic leukodystrophy	germline not applicable	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

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) AND Metachromatic leukodystrophy	ClinVar	Detail
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic le...	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: rs199476380 dbSNP
Genome: hg38
Position: chr22:50,625,383-50,625,383
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8586
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 115248
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.6030820491461892E-5

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