chr22:51064615: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	chr22:51,064,615-51,064,615
hg38	chr22:50,626,187-50,626,187 View the variant detail on this assembly version.

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.946G>A	NP_000478.3:p.Ala316Thr
	NM_001085426.2:c.946G>A	NP_001078895.2:p.Ala316Thr
	NM_001085427.2:c.946G>A	NP_001078896.2:p.Ala316Thr
	NM_001085425.2:c.946G>A	NP_001078894.2:p.Ala316Thr
	NM_001085428.2:c.688G>A	NP_001078897.1:p.Ala230Thr
Ensemble	ENST00000216124.10:c.946G>A	ENST00000216124.10:p.Ala316Thr
	ENST00000356098.9:c.946G>A	ENST00000356098.9:p.Ala316Thr
	ENST00000395619.3:c.946G>A	ENST00000395619.3:p.Ala316Thr
	ENST00000395621.7:c.946G>A	ENST00000395621.7:p.Ala316Thr
	ENST00000453344.6:c.688G>A	ENST00000453344.6:p.Ala230Thr

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
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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
not provided		no assertion provided	not provided	not provided	Detail
Conflicting interpretations of pathogenicity	2022-11-13	criteria provided, conflicting interpretations	metachromatic leukodystrophy	germline not applicable unknown	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.946G>A (p.Ala316Thr) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) AND Metachromatic leukodystrophy	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: rs199476368 dbSNP
Genome: hg19
Position: chr22:51,064,615-51,064,615
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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