chr22:50626706:C>T Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,134-51,065,134 View the variant detail on this assembly version.
hg38 chr22:50,626,706-50,626,706

HGVS

Type Transcript Protein
RefSeq NM_001085428.2:c.481G>A NP_001078897.1:p.Gly161Arg
NM_001085427.2:c.739G>A NP_001078896.2:p.Gly247Arg
NM_000487.5:c.739G>A NP_000478.3:p.Gly247Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 tgv66343122 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic juvenile metachromatic leukodystrophy with mental regression germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-07-01 no assertion criteria provided Metachromatic leukodystrophy, severe germline Detail
Pathogenic Likely pathogenic 2024-03-23 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline inherited maternal not applicable unknown Detail
Pathogenic 2023-08-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic Mutations in the arylsulfatase A gene of Japanese patients with metachromatic le... UNIPROT 8101083 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) AND Metachromatic leukodystrophy, severe ClinVar Detail
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) AND not provided ClinVar Detail
NA DisGeNET Detail
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. 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
rs74315471 dbSNP
Genome
hg38
Position
chr22:50,626,706-50,626,706
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs74315471
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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)
120572
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.293799555452344E-6
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