chr22:51064006:C>T Detail (hg19) (ARSA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr22:51,064,006-51,064,006
hg38	chr22:50,625,578-50,625,578 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1210+1G>A
	NM_001085426.2:c.1210+1G>A
	NM_001085427.2:c.1210+1G>A
	NM_001085425.2:c.1210+1G>A
	NM_001085428.2:c.952+1G>A
Ensemble	ENST00000216124.10:c.1210+1G>A
	ENST00000356098.9:c.1210+1G>A
	ENST00000395619.3:c.1210+1G>A
	ENST00000395621.7:c.1210+1G>A
	ENST00000453344.6:c.952+1G>A

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
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	COSM4960934	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-12-01	no assertion criteria provided	Metachromatic leukodystrophy, juvenile type	germline	Detail
Pathogenic	2022-10-17	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline not applicable unknown	Detail
Pathogenic	2021-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	NA	CLINVAR		Detail
0.241	Metachromatic leukodystrophy, juvenile type	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1210+1G>A AND Metachromatic leukodystrophy, juvenile type	ClinVar	Detail
NM_000487.6(ARSA):c.1210+1G>A AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.1210+1G>A AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80338820 dbSNP
Genome: hg19
Position: chr22:51,064,006-51,064,006
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8636
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): 120422
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): 8.304130474498016E-6

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