chr22:50627261:C>T Detail (hg38) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,689-51,065,689 View the variant detail on this assembly version.
hg38 chr22:50,627,261-50,627,261

HGVS

Type Transcript Protein
RefSeq NM_001085428.2:c.112G>A NP_001078897.1:p.Gly38Ser
NM_001085426.2:c.370G>A NP_001078895.2:p.Gly124Ser
NM_000487.5:c.370G>A NP_000478.3:p.Gly124Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Conflicting classifications of pathogenicity
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic adult metachromatic leukodystrophy with dementia germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline not applicable Detail
Uncertain significance 2016-10-27 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-01-31 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2023-02-20 criteria provided, single submitter ARSA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic We have identified a new mutation in the ASA gene of a patient with adult-type M... UNIPROT 7902317 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) AND Inborn genetic diseases ClinVar Detail
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) AND ARSA-related disorder ClinVar Detail
NA DisGeNET Detail
We have identified a new mutation in the ASA gene of a patient with adult-type MLD. 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
rs74315461 dbSNP
Genome
hg38
Position
chr22:50,627,261-50,627,261
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
4388
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.2789425706472196E-4
Chromosome Counts in All Race (ExAC)
66774
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)
2.9951777638002814E-5
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