chr22:50627166:C>G Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,594-51,065,594 View the variant detail on this assembly version.
hg38 chr22:50,627,166-50,627,166

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.465G>C NP_000478.3:p.Gln155His
NM_001085426.2:c.465G>C NP_001078895.2:p.Gln155His
NM_001085427.2:c.465G>C NP_001078896.2:p.Gln155His
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:<0.001

Prediction

ClinVar

Clinical Significance not provided
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 tgv66343258 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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient wi... UNIPROT 8891236 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.465G>C (p.Gln155His) AND not provided ClinVar Detail
Two novel mutations in the arylsulfatase A (ASA) gene from a Japanese patient with the late-infantil... 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
rs199476377 dbSNP
Genome
hg38
Position
chr22:50,627,166-50,627,166
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs199476377
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))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16752
East Asian Chromosome Counts (ExAC)
8368
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)
111626
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)
8.958486374142224E-6
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