chr22:51063477:T>C Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,063,477-51,063,477
hg38 chr22:50,625,049-50,625,049 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.*96A>G
NM_001085426.2:c.*96A>G
NM_001085427.2:c.*96A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.009
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign; other
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 tgv66342799 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-08-01 no assertion criteria provided Arylsulfatase A pseudodeficiency germline Detail
Benign; other 2021-06-10 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline unknown Detail
Benign; other 2021-11-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign criteria provided, single submitter not specified 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.*96A>G AND Arylsulfatase A pseudodeficiency ClinVar Detail
NM_000487.6(ARSA):c.*96A>G AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.*96A>G AND not provided ClinVar Detail
NM_000487.6(ARSA):c.*96A>G AND not specified 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
rs6151429 dbSNP
Genome
hg19
Position
chr22:51,063,477-51,063,477
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs6151429
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0093
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
156
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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