chr22:51064630:C>T Detail (hg19) (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	chr22:51,064,630-51,064,630
hg38	chr22:50,626,202-50,626,202 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.931G>A	NP_000478.3:p.Gly311Ser
	NM_001085426.2:c.931G>A	NP_001078895.2:p.Gly311Ser
	NM_001085427.2:c.931G>A	NP_001078896.2:p.Gly311Ser
	NM_001085425.2:c.931G>A	NP_001078894.2:p.Gly311Ser
	NM_001085428.2:c.673G>A	NP_001078897.1:p.Gly225Ser
Ensemble	ENST00000216124.10:c.931G>A	ENST00000216124.10:p.Gly311Ser
	ENST00000356098.9:c.931G>A	ENST00000356098.9:p.Gly311Ser
	ENST00000395619.3:c.931G>A	ENST00000395619.3:p.Gly311Ser
	ENST00000395621.7:c.931G>A	ENST00000395621.7:p.Gly311Ser
	ENST00000453344.6:c.673G>A	ENST00000453344.6:p.Gly225Ser

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
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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
Pathogenic	1993-08-01	no assertion criteria provided	Metachromatic leukodystrophy, late infantile form	germline	Detail
Pathogenic Likely pathogenic	2024-02-12	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline inherited not applicable unknown	Detail
no classifications from unflagged records	2024-01-31	no classifications from unflagged records	Pseudoarylsulfatase A deficiency	inherited	Detail
Pathogenic	2021-07-10	criteria provided, single submitter		germline	Detail
Pathogenic	2022-09-30	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused...	UNIPROT	15326627	Detail
0.124	Metachromatic Leukodystrophy, Infant	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND Metachromatic leukodystrophy, late infantile form	ClinVar	Detail
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND Pseudoarylsulfatase A deficiency	ClinVar	Detail
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND Abnormality of the nervous system	ClinVar	Detail
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) AND not provided	ClinVar	Detail
Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency o...	DisGeNET	Detail
NA	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: rs74315459 dbSNP
Genome: hg19
Position: chr22:51,064,630-51,064,630
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6172
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): 90272
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): 2.2155264090747962E-5

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