chr22:51065803:G>A Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,803-51,065,803
hg38 chr22:50,627,375-50,627,375 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.256C>T NP_000478.3:p.Arg86Trp
NM_001085426.2:c.256C>T NP_001078895.2:p.Arg86Trp
NM_001085427.2:c.256C>T NP_001078896.2:p.Arg86Trp
Summary

MGeND

Clinical significance
Variant entry
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:[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 tgv66343334 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
Pathogenic 2024-01-15 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline not applicable unknown Detail
no classifications from unflagged records 2024-02-19 no classifications from unflagged records frontotemporal dementia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic Identification of 12 novel mutations and two new polymorphisms in the arylsulfat... UNIPROT 10477432 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) AND Frontotemporal dementia ClinVar Detail
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotyp... 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
rs199476352 dbSNP
Genome
hg19
Position
chr22:51,065,803-51,065,803
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs199476352
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))
16758
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