chr22:51063824:G>T Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,063,824-51,063,824
hg38 chr22:50,625,396-50,625,396 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.1279C>A NP_000478.3:p.Pro427Thr
NM_001085426.2:c.1279C>A NP_001078895.2:p.Pro427Thr
NM_001085427.2:c.1279C>A NP_001078896.2:p.Pro427Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 2003-06-20 no assertion criteria provided Metachromatic leukodystrophy, juvenile type germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Metachromatic leukodystrophy, juvenile type NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic Sedimentation analysis was used to study the oligomerization capacity of C300F a... UNIPROT 12788103 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) AND Metachromatic leukodystrophy, juvenile type ClinVar Detail
NA DisGeNET Detail
Sedimentation analysis was used to study the oligomerization capacity of C300F and P425T-substituted... 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
rs74315485 dbSNP
Genome
hg19
Position
chr22:51,063,824-51,063,824
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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