chr22:50626976:A>C 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	chr22:51,065,404-51,065,404 View the variant detail on this assembly version.
hg38	chr22:50,626,976-50,626,976

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.542T>G	NP_000478.3:p.Ile181Ser
	NM_001085426.2:c.542T>G	NP_001078895.2:p.Ile181Ser
	NM_001085427.2:c.542T>G	NP_001078896.2:p.Ile181Ser
	NM_001085425.2:c.542T>G	NP_001078894.2:p.Ile181Ser
	NM_001085428.2:c.284T>G	NP_001078897.1:p.Ile95Ser
Ensemble	ENST00000216124.10:c.542T>G	ENST00000216124.10:p.Ile181Ser
	ENST00000356098.9:c.542T>G	ENST00000356098.9:p.Ile181Ser
	ENST00000395619.3:c.542T>G	ENST00000395619.3:p.Ile181Ser
	ENST00000395621.7:c.542T>G	ENST00000395621.7:p.Ile181Ser
	ENST00000453344.6:c.284T>G	ENST00000453344.6:p.Ile95Ser

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 Likely pathogenic
Review star
Show details

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	2002-05-01	no assertion criteria provided	Metachromatic leukodystrophy, juvenile type	germline	Detail
Pathogenic	2002-05-01	no assertion criteria provided	Metachromatic leukodystrophy, adult type	germline	Detail
Pathogenic Likely pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline not applicable paternal unknown	Detail
Pathogenic	2022-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2014-09-07	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Metachromatic Leukodystrophy, Adult-Type (disorder)	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	Further sequence analysis of the ARSA gene performed on DNA samples of Polish ML...	UNIPROT	20339381	Detail
0.241	Metachromatic Leukodystrophy, Adult-Type (disorder)	P426L and I179S are the two most frequent mutations in juvenile and adult metach...	BeFree	16966551	Detail
0.241	Metachromatic leukodystrophy, juvenile type	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	Our preliminary studies on 43 unrelated Polish patients suffering from different...	BeFree	20339381	Detail
0.514	Leukodystrophy, Metachromatic	It seems that I179S mutation on one allele with another mutation on the other al...	BeFree	9007312	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) AND Metachromatic leukodystrophy, juvenile type	ClinVar	Detail
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) AND Metachromatic leukodystrophy, adult type	ClinVar	Detail
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unid...	DisGeNET	Detail
P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrop...	DisGeNET	Detail
NA	DisGeNET	Detail
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachroma...	DisGeNET	Detail
It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA act...	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: rs74315457 dbSNP
Genome: hg38
Position: chr22:50,626,976-50,626,976
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8478
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): 116786
Allele Counts in All Race (ExAC): 26
Heterozygous Counts in All Race (ExAC): 26
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.226294247598171E-4

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