chr22:50625633: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	chr22:51,064,061-51,064,061 View the variant detail on this assembly version.
hg38	chr22:50,625,633-50,625,633

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1156C>T	NP_000478.3:p.Arg386Cys
	NM_001085426.2:c.1156C>T	NP_001078895.2:p.Arg386Cys
	NM_001085427.2:c.1156C>T	NP_001078896.2:p.Arg386Cys
	NM_001085425.2:c.1156C>T	NP_001078894.2:p.Arg386Cys
	NM_001085428.2:c.898C>T	NP_001078897.1:p.Arg300Cys
Ensemble	ENST00000216124.10:c.1156C>T	ENST00000216124.10:p.Arg386Cys
	ENST00000356098.9:c.1156C>T	ENST00000356098.9:p.Arg386Cys
	ENST00000395619.3:c.1156C>T	ENST00000395619.3:p.Arg386Cys
	ENST00000395621.7:c.1156C>T	ENST00000395621.7:p.Arg386Cys
	ENST00000453344.6:c.898C>T	ENST00000453344.6:p.Arg300Cys

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	Conflicting classifications of pathogenicity
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
not provided		no assertion provided	not provided	not provided	Detail
Likely pathogenic	2024-03-29	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline not applicable unknown	Detail
Uncertain significance	2023-09-06	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Metachromatic leukodystrophy: identification of the first deletion in exon 1 and...	UNIPROT	9090526	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) AND not specified	ClinVar	Detail
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point...	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: rs199476370 dbSNP
Genome: hg38
Position: chr22:50,625,633-50,625,633
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8638
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): 120564
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6588699777711422E-5

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