chr22:50627329: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	chr22:51,065,757-51,065,757 View the variant detail on this assembly version.
hg38	chr22:50,627,329-50,627,329

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.302G>T	NP_000478.3:p.Gly101Val
	NM_001085426.2:c.302G>T	NP_001078895.2:p.Gly101Val
	NM_001085427.2:c.302G>T	NP_001078896.2:p.Gly101Val
	NM_001085425.2:c.302G>T	NP_001078894.2:p.Gly101Val
	NM_001085428.2:c.44G>T	NP_001078897.1:p.Gly15Val
Ensemble	ENST00000216124.10:c.302G>T	ENST00000216124.10:p.Gly101Val
	ENST00000356098.9:c.302G>T	ENST00000356098.9:p.Gly101Val
	ENST00000395619.3:c.302G>T	ENST00000395619.3:p.Gly101Val
	ENST00000395621.7:c.302G>T	ENST00000395621.7:p.Gly101Val
	ENST00000453344.6:c.44G>T	ENST00000453344.6:p.Gly15Val

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	tgv66343311	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	2023-11-06	criteria provided, single submitter	metachromatic leukodystrophy	germline not applicable	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	Identification of 12 novel mutations and two new polymorphisms in the arylsulfat...	UNIPROT	10477432	Detail
0.514	Leukodystrophy, Metachromatic	In a transient expression study, COS cells transfected with the mutant cDNA carr...	BeFree	1673291	Detail
0.514	Leukodystrophy, Metachromatic	She was diagnosed with MLD by genetic analysis, which revealed compound heterozy...	UNIPROT	21265945	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) AND Metachromatic leukodystrophy	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotyp...	DisGeNET	Detail
In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp di...	DisGeNET	Detail
She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense m...	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: rs74315455 dbSNP
Genome: hg38
Position: chr22:50,627,329-50,627,329
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 3058
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 3.270111183780249E-4
Chromosome Counts in All Race (ExAC): 47324
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.1130927225086637E-5

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