chr22:51064678:C>T Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,064,678-51,064,678
hg38 chr22:50,626,250-50,626,250 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.883G>A NP_000478.3:p.Gly295Ser
NM_001085426.2:c.883G>A NP_001078895.2:p.Gly295Ser
NM_001085427.2:c.883G>A NP_001078896.2:p.Gly295Ser
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 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 tgv66343058 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-11-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic Likely pathogenic 2023-12-18 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline not applicable paternal unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused... UNIPROT 15326627 Detail
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) AND Metachromatic leukodystrophy ClinVar Detail
Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency o... DisGeNET 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
rs199476349 dbSNP
Genome
hg19
Position
chr22:51,064,678-51,064,678
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))
rs199476349
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))
16758
East Asian Chromosome Counts (ExAC)
8024
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)
110294
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.8133352675576186E-5
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