chr22:51065593:C>T Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,593-51,065,593
hg38 chr22:50,627,165-50,627,165 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.465+1G>A
NM_001085426.2:c.465+1G>A
NM_001085427.2:c.465+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-07-01 no assertion criteria provided Metachromatic leukodystrophy, juvenile type germline Detail
Pathogenic 2001-07-01 no assertion criteria provided Metachromatic leukodystrophy, adult type germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline inherited maternal paternal unknown Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline paternal Detail
Uncertain significance 2019-01-01 no assertion criteria provided intellectual disability unknown Detail
Pathogenic 2022-06-16 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-09-13 criteria provided, single submitter Neurodevelopmental disorder germline Detail
Pathogenic 2022-04-14 criteria provided, single submitter germline Detail
Pathogenic 2023-12-02 criteria provided, single submitter ARSA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Metachromatic Leukodystrophy, Adult-Type (disorder) NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.241 Metachromatic leukodystrophy, juvenile type NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.465+1G>A AND Metachromatic leukodystrophy, juvenile type ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND Metachromatic leukodystrophy, adult type ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND not provided ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND Intellectual disability ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND Inborn genetic diseases ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND Neurodevelopmental disorder ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND See cases ClinVar Detail
NM_000487.6(ARSA):c.465+1G>A AND ARSA-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80338815 dbSNP
Genome
hg19
Position
chr22:51,065,593-51,065,593
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8374
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)
111568
Allele Counts in All Race (ExAC)
88
Heterozygous Counts in All Race (ExAC)
88
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.887566327262297E-4
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