chr22:50627747:C> Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,066,175-51,066,175 
hg38 chr22:50,627,747-50,627,747

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.33delG NP_000478.3:p.Ala12ProfsTer16
NM_001085426.2:c.33delG NP_001078895.2:p.Ala12ProfsTer16
NM_001085427.2:c.33delG NP_001078896.2:p.Ala12ProfsTer16
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 2013-05-29 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-08-13 criteria provided, single submitter metachromatic leukodystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.34del (p.Ala12fs) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.34del (p.Ala12fs) AND Metachromatic leukodystrophy ClinVar Detail
NA 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
rs398123415 dbSNP
Genome
hg38
Position
chr22:50,627,747-50,627,747
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser