chr22:51064042: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	chr22:51,064,042-51,064,042
hg38	chr22:50,625,614-50,625,614 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1175G>A	NP_000478.3:p.Arg392Gln
	NM_001085426.2:c.1175G>A	NP_001078895.2:p.Arg392Gln
	NM_001085427.2:c.1175G>A	NP_001078896.2:p.Arg392Gln
	NM_001085425.2:c.1175G>A	NP_001078894.2:p.Arg392Gln
	NM_001085428.2:c.917G>A	NP_001078897.1:p.Arg306Gln
Ensemble	ENST00000216124.10:c.1175G>A	ENST00000216124.10:p.Arg392Gln
	ENST00000356098.9:c.1175G>A	ENST00000356098.9:p.Arg392Gln
	ENST00000395619.3:c.1175G>A	ENST00000395619.3:p.Arg392Gln
	ENST00000395621.7:c.1175G>A	ENST00000395621.7:p.Arg392Gln
	ENST00000453344.6:c.917G>A	ENST00000453344.6:p.Arg306Gln

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
Likely pathogenic	2015-05-19	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2023-12-05	criteria provided, single submitter	metachromatic leukodystrophy	germline not applicable unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) AND Metachromatic leukodystrophy	ClinVar	Detail
NA	DisGeNET	Detail
Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unid...	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: rs199476391 dbSNP
Genome: hg19
Position: chr22:51,064,042-51,064,042
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8640
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): 120706
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.313836926084867E-5

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