chr22:51063814:A>G 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	chr22:51,063,814-51,063,814
hg38	chr22:50,625,386-50,625,386 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1289T>C	NP_000478.3:p.Leu430Pro
	NM_001085426.2:c.1289T>C	NP_001078895.2:p.Leu430Pro
	NM_001085427.2:c.1289T>C	NP_001078896.2:p.Leu430Pro
	NM_001085425.2:c.1289T>C	NP_001078894.2:p.Leu430Pro
	NM_001085428.2:c.1031T>C	NP_001078897.1:p.Leu344Pro
Ensemble	ENST00000216124.10:c.1289T>C	ENST00000216124.10:p.Leu430Pro
	ENST00000356098.9:c.1289T>C	ENST00000356098.9:p.Leu430Pro
	ENST00000395619.3:c.1289T>C	ENST00000395619.3:p.Leu430Pro
	ENST00000395621.7:c.1289T>C	ENST00000395621.7:p.Leu430Pro
	ENST00000453344.6:c.1031T>C	ENST00000453344.6:p.Leu344Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
Likely pathogenic	2022-12-01	criteria provided, single submitter	not provided	germline not provided	Detail
Conflicting interpretations of pathogenicity	2023-08-25	criteria provided, conflicting interpretations	metachromatic leukodystrophy	germline not applicable	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.514	Leukodystrophy, Metachromatic	Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with me...	UNIPROT	18693274	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) AND Metachromatic leukodystrophy	ClinVar	Detail
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodys...	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: rs199476392 dbSNP
Genome: hg19
Position: chr22:51,063,814-51,063,814
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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